COL4A5 (collagen type IV alpha 5 chain)

Gene

• Entrez ID: 1287
• Gene name: Collagen type IV alpha 5 chain
• Gene symbol: COL4A5
• Synonyms: ASLN, ATS, ATS1, CA54
• Chromosome: X
• Chromosome location: Xq22.3
• Summary: This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the typ

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs5973838	C>A,G,T	Pathogenic	Intron variant
rs104886042	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886043	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886044	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886045	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886046	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886047	T>C,G	Pathogenic	Coding sequence variant, synonymous variant, stop gained, genic upstream transcript variant
rs104886048	C>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs104886051	G>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs104886052	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886053	G>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886054	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886055	G>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886056	G>C,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886057	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886058	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886059	G>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886060	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886061	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886062	G>C,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886063	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886065	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886066	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886067	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886068	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886069	G>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886070	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886071	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs104886072	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886073	G>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886074	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886075	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886076	G>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886077	G>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886078	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886079	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886080	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs104886081	G>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs104886082	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs104886083	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs104886084	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886085	G>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886086	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886088	G>A,C,T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, missense variant
rs104886091	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886092	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886093	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886094	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs104886095	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886096	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886097	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886098	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886099	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886100	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886101	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886102	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886103	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886104	T>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886105	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886107	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886108	G>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886109	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886110	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886111	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886112	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886113	C>-,CC	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886114	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886115	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886116	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886117	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886118	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886119	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886120	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886121	G>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886122	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886123	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886124	G>-	Pathogenic	Splice donor variant
rs104886125	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886126	G>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886127	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886128	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886129	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886130	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886131	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886132	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886133	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886134	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs104886135	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886136	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886137	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886138	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886139	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886140	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886141	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886142	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886143	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886144	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886145	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886146	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886147	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886150	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886151	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886152	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886153	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886156	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886157	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886158	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886159	G>T	Pathogenic	Coding sequence variant, stop gained
rs104886160	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886161	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886162	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs104886163	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886164	C>G,T	Likely-benign, pathogenic, benign	Coding sequence variant, missense variant
rs104886165	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886166	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886167	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886168	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886169	G>T	Pathogenic	Coding sequence variant, stop gained
rs104886171	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886172	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886173	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886174	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886175	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886176	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs104886177	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886178	T>-	Pathogenic	Splice donor variant
rs104886179	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886180	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886181	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs104886182	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886183	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886184	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886185	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886186	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886187	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886188	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886189	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs104886190	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886191	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886193	A>G	Pathogenic	Coding sequence variant, missense variant
rs104886194	C>T	Pathogenic	Coding sequence variant, stop gained
rs104886195	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886196	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886197	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886198	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886199	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886200	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886201	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886202	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886204	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886206	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886207	C>T	Pathogenic	Coding sequence variant, stop gained
rs104886208	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886209	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886210	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886211	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886212	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886213	C>T	Pathogenic	Coding sequence variant, stop gained
rs104886214	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886215	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886216	G>T	Pathogenic	Coding sequence variant, stop gained
rs104886217	G>T	Pathogenic	Coding sequence variant, stop gained
rs104886218	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886219	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs104886221	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs104886222	C>G	Pathogenic	Coding sequence variant, stop gained
rs104886223	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886224	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886225	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs104886226	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886227	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886228	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886229	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886231	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886232	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886233	A>T	Pathogenic	Coding sequence variant, stop gained
rs104886234	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886235	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs104886236	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886237	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886238	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886239	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886240	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886241	C>T	Pathogenic	Coding sequence variant, stop gained
rs104886242	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886244	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886245	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886246	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886247	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886248	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886249	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886250	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886251	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886252	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886253	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886254	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs104886255	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs104886256	G>-	Pathogenic	Coding sequence variant, splice donor variant
rs104886257	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886258	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886259	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886260	A>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs104886261	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886262	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886263	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886264	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886265	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs104886266	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs104886267	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs104886268	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886269	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886272	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886273	G>C,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886274	G>A,C,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886275	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886276	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886277	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886279	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886280	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886281	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886282	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886283	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886284	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886286	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886287	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886288	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886289	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886290	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886291	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886292	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886293	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs104886294	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886296	T>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886297	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886298	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886299	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886300	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886301	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886302	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886303	T>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886304	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886305	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886306	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886307	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886308	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886310	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886311	T>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886312	G>A	Pathogenic	Splice donor variant
rs104886313	G>A	Pathogenic	Splice donor variant
rs104886314	AAGT>-	Pathogenic	Intron variant, splice donor variant
rs104886315	G>A,T	Pathogenic, uncertain-significance	Intron variant
rs104886316	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886317	G>A	Pathogenic	Splice donor variant
rs104886318	->G	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886319	A>G	Pathogenic	Splice acceptor variant
rs104886320	AT>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886321	CCCCCCAGG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, inframe deletion
rs104886323	G>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886324	T>G	Pathogenic	Splice donor variant
rs104886325	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886326	->GGGG	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886327	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886328	->C	Pathogenic	Intron variant
rs104886329	G>A	Pathogenic	Splice acceptor variant
rs104886331	G>A	Pathogenic	Splice donor variant
rs104886332	G>T	Pathogenic	Splice acceptor variant
rs104886333	AG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886337	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs104886338	G>A,T	Pathogenic	Splice acceptor variant
rs104886339	G>A	Pathogenic	Splice donor variant
rs104886340	G>T	Pathogenic	Splice donor variant
rs104886341	A>C,G	Pathogenic	Intron variant
rs104886342	->CAACCAGGCTTGCCAGGGATACCTGGTAGCAAAGGAGAACCAGGTATCCCTGG	Pathogenic	Coding sequence variant, frameshift variant
rs104886343	A>C	Pathogenic	Intron variant
rs104886344	A>G	Pathogenic	Splice acceptor variant
rs104886345	C>G	Pathogenic	Intron variant
rs104886346	AAGGCCCTCCTGGGCCACCCG>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886347	T>G	Pathogenic	Splice donor variant
rs104886348	G>A	Pathogenic	Splice acceptor variant
rs104886349	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886350	G>A,T	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886351	->A	Pathogenic	Coding sequence variant, frameshift variant
rs104886352	A>C,G	Pathogenic	Intron variant
rs104886354	AGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886355	AGGGATCCCCGGAGCACC>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886356	ACCACCAGG>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886359	TCCTGGACTTGATGTTCCAGGACC>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886360	T>G	Pathogenic	Intron variant
rs104886361	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886362	->C	Pathogenic	Coding sequence variant, frameshift variant
rs104886363	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886365	G>A,T	Pathogenic	Intron variant, genic upstream transcript variant
rs104886366	T>-	Pathogenic	Splice donor variant
rs104886367	G>T	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886368	->T	Pathogenic	Coding sequence variant, frameshift variant
rs104886369	GTA>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886370	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886371	G>C,T	Pathogenic	Splice donor variant
rs104886372	G>A,C,T	Pathogenic	Splice acceptor variant
rs104886373	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886374	GACCCAGGGCAACCTGGA>-	Pathogenic, likely-pathogenic	Coding sequence variant, inframe deletion
rs104886375	G>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886377	G>T	Pathogenic	Splice donor variant
rs104886378	G>A	Pathogenic	Splice acceptor variant
rs104886379	A>G	Pathogenic	Splice acceptor variant
rs104886380	->CCTG	Pathogenic	Coding sequence variant, frameshift variant
rs104886381	G>A	Pathogenic	Splice acceptor variant
rs104886382	C>G	Pathogenic	Intron variant
rs104886383	C>G	Pathogenic	Intron variant
rs104886384	G>A	Pathogenic	Splice acceptor variant
rs104886385	A>G	Pathogenic	Splice acceptor variant
rs104886387	C>A,G	Pathogenic	Intron variant
rs104886388	A>G	Pathogenic	Intron variant
rs104886389	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886390	ACCTCAAGG>-	Pathogenic	Coding sequence variant, inframe deletion, genic upstream transcript variant
rs104886391	AGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTCTCC>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886392	->CC	Pathogenic	Coding sequence variant, frameshift variant
rs104886393	CAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAACCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886394	->GGCA	Pathogenic	Coding sequence variant, frameshift variant
rs104886395	G>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886396	G>A	Pathogenic	Intron variant, genic upstream transcript variant
rs104886397	A>G,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant, downstream transcript variant
rs104886403	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886405	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886409	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886413	G>A,C,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs104886414	G>A	Pathogenic	Intron variant, genic upstream transcript variant
rs104886416	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886420	GA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886421	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886423	T>C	Pathogenic	Intron variant, genic downstream transcript variant
rs104886424	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886426	CGCTGAAA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886429	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886430	->T	Pathogenic	Intron variant, genic upstream transcript variant
rs104886431	G>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886432	->G	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886433	->C	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886434	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886435	GCCCTCCTGGTCCACCAGG>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886436	TT>-	Pathogenic	Intron variant, genic upstream transcript variant
rs104886437	C>A	Pathogenic	Intron variant, genic upstream transcript variant
rs104886438	->G,GG	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886440	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886441	C>G	Pathogenic	Intron variant, genic upstream transcript variant
rs104886442	G>A,T	Pathogenic	Intron variant, genic upstream transcript variant
rs104886443	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886444	T>G	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886445	GGGACTT>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886446	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886447	G>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs104886448	G>A	Pathogenic	5 prime UTR variant, splice acceptor variant
rs104886449	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886450	G>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886451	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886452	G>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant, upstream transcript variant
rs104886453	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant, upstream transcript variant
rs142929745	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144282156	C>A,T	Benign, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs150305490	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs183837448	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs201123438	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201220208	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874655	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281874656	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874657	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs281874658	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281874659	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281874660	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874661	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs281874662	A>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs281874663	G>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874664	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874667	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874668	T>A,C	Pathogenic	Intron variant
rs281874669	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874670	G>C	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874671	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874672	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874673	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874674	G>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs281874675	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874676	C>T	Pathogenic	Coding sequence variant, stop gained
rs281874677	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874678	TTCCTGGCCCGAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874679	G>C	Pathogenic	Intron variant
rs281874680	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874681	C>T	Pathogenic	Missense variant, coding sequence variant
rs281874682	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs281874683	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs281874684	G>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs281874685	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874686	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874687	G>C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs281874688	G>T	Pathogenic	Splice donor variant
rs281874689	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs281874690	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874691	A>G	Pathogenic	Synonymous variant, coding sequence variant
rs281874692	G>T	Pathogenic	Coding sequence variant, stop gained
rs281874694	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874695	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874696	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874697	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874698	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874699	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874700	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874701	GTATGATGGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874702	G>A,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs281874703	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained
rs281874704	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874705	C>T	Pathogenic	Coding sequence variant, stop gained
rs281874706	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874708	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874710	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874711	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874712	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs281874713	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs281874714	G>A	Pathogenic	Splice donor variant
rs281874715	G>T	Pathogenic	Splice donor variant
rs281874716	GGGTGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874717	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874719	C>T	Pathogenic	Coding sequence variant, stop gained
rs281874720	CCCCCAGGCCCTCCTGG>T	Pathogenic	Frameshift variant, coding sequence variant
rs281874721	G>T	Pathogenic	Missense variant, coding sequence variant
rs281874722	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874723	G>A,T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874724	G>A,C	Likely-pathogenic, pathogenic	Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant
rs281874725	G>A	Pathogenic	Downstream transcript variant, splice acceptor variant, genic downstream transcript variant
rs281874727	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs281874728	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs281874729	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874731	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874732	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874733	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874734	G>C,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs281874735	G>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874736	->TCCAGATGGATTGCAAGGTCCCCCAGGTCCCCCTGG	Pathogenic	Inframe insertion, coding sequence variant, genic downstream transcript variant
rs281874737	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874738	T>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs281874739	G>A	Pathogenic	Intron variant, genic upstream transcript variant
rs281874740	C>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874741	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs281874742	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874743	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874744	ATTATGTTCCTTCTCCTTTTCC>CA	Pathogenic	Intron variant, genic downstream transcript variant
rs281874745	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874746	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874747	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874748	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874749	TG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874750	T>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874751	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874752	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs281874753	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs281874754	G>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874755	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874756	A>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs281874757	->AG	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874758	A>G,T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs281874759	GC>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874761	T>G	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874762	G>A,T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, stop gained
rs281874763	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874764	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874766	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874767	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874768	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874769	C>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs377663039	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant
rs397515492	->T	Pathogenic	Frameshift variant, coding sequence variant
rs397515494	->T	Pathogenic	Intron variant, genic downstream transcript variant
rs397515495	CCTCCTGG>AACCTGGACCAATGGGACCAATGGGAACAC	Pathogenic	Frameshift variant, coding sequence variant
rs397515496	G>T	Pathogenic	Missense variant, coding sequence variant
rs397515497	A>G	Pathogenic	Intron variant
rs483352870	G>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs587776400	A>G	Pathogenic	Splice acceptor variant, downstream transcript variant, genic downstream transcript variant
rs587776401	G>A,C	Pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs587776402	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs587776403	G>A,C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs587776404	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs606231370	->AACC	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs606231371	->TCCT	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs606231372	AGATGGATTGCAAGGTCCCCCAGGTCC>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs606231373	->T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs606231374	CCCCATT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs753437190	G>A	Likely-pathogenic	Splice acceptor variant
rs755038747	G>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs759179999	A>C	Pathogenic	Splice acceptor variant
rs759512115	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained, genic upstream transcript variant
rs760109866	A>G	Pathogenic	Splice acceptor variant
rs767087695	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs767619131	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs770451831	G>A,T	Pathogenic	Splice acceptor variant
rs794727397	G>A	Pathogenic	Missense variant, coding sequence variant
rs797045035	G>A	Pathogenic	Splice acceptor variant, downstream transcript variant, genic downstream transcript variant
rs867625069	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs867721264	G>A,T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs868580411	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs869025330	A>G	Likely-pathogenic	Intron variant
rs869025331	G>A,C	Pathogenic	Splice donor variant
rs869025332	G>A	Pathogenic	Missense variant, coding sequence variant
rs869025333	G>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs869025334	G>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs878853015	G>A,T	Likely-pathogenic	Missense variant, stop gained, 5 prime UTR variant, coding sequence variant
rs878853017	AGGTCTTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs878853030	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs878853089	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs878853114	G>A	Pathogenic	Splice donor variant
rs886039886	CCCT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886039890	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041509	G>A,T	Pathogenic	Splice acceptor variant
rs1057516187	CC>G	Pathogenic	Frameshift variant, coding sequence variant
rs1057516203	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057518125	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057522042	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1060499694	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499710	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794029	GGTTTACATGGAATA>-	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1085307808	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691795	G>A	Pathogenic	Missense variant, coding sequence variant
rs1131692060	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131692246	A>-	Likely-pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1170254952	G>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1196820381	C>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1210495852	G>A,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1291655627	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1360698598	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1437633065	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs1556403086	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556403112	G>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556403276	GTAAG>-	Pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, splice donor variant
rs1556404027	G>C	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556404985	G>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556405010	TA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556405916	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556405926	A>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556405930	G>A	Uncertain-significance, likely-pathogenic	Intron variant, genic upstream transcript variant
rs1556406001	G>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556406775	G>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556406859	A>G	Pathogenic, likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1556407064	G>A,T	Pathogenic, likely-pathogenic	Missense variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1556407078	C>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs1556407684	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1556407701	G>T	Pathogenic	Splice donor variant
rs1556410266	G>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1556410516	G>C	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1556411578	AAGGTGACA>-	Pathogenic	5 prime UTR variant, splice acceptor variant, coding sequence variant
rs1556411631	->C	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1556418210	G>A	Pathogenic	Missense variant, coding sequence variant
rs1556418287	G>A	Pathogenic	Splice donor variant
rs1556419800	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1556419831	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556419850	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556419869	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556419895	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1556420349	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556420358	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556421106	GCCTGGAGACCCAGGGCA>-	Pathogenic	Inframe deletion, coding sequence variant
rs1556421731	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556439394	T>A	Pathogenic	Stop gained, coding sequence variant
rs1556445736	A>G	Pathogenic	Synonymous variant, coding sequence variant
rs1556446493	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs1556446657	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556451235	TCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAATCCAGG>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs1556453243	G>T	Pathogenic	Genic downstream transcript variant, stop gained, downstream transcript variant, coding sequence variant
rs1556453276	G>-	Pathogenic	Genic downstream transcript variant, downstream transcript variant, frameshift variant, coding sequence variant
rs1556462911	CAGATGTGCAGTATGTGAAGCTCCAGCTGTGG>-	Pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant, coding sequence variant
rs1556462917	G>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1556463583	->A	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1569488388	->GT	Pathogenic	Coding sequence variant, genic upstream transcript variant, splice donor variant
rs1569488415	->CA	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569488424	GTATT>ATAC	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569488426	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569488429	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569488434	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs1569488437	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1569488841	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569488946	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569489328	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569489339	CAAGTAA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, splice donor variant, intron variant
rs1569489341	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569489348	AGTA>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, splice donor variant, intron variant
rs1569489353	->T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1569489799	C>A	Pathogenic	Genic upstream transcript variant, intron variant
rs1569489828	->CC	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569489856	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569489863	->A	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569490148	G>T	Pathogenic	Genic upstream transcript variant, intron variant
rs1569490379	G>A,C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569490387	T>C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1569490446	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569490465	T>C	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1569490592	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569490603	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569490635	G>A	Pathogenic	Genic upstream transcript variant, intron variant
rs1569490913	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569490932	T>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1569490970	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569490975	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569490985	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs1569491068	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, missense variant
rs1569491075	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, missense variant
rs1569491107	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant, upstream transcript variant
rs1569491387	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569491399	G>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569491718	G>A	Pathogenic	Splice acceptor variant
rs1569491729	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569491753	G>C	Pathogenic	Splice donor variant
rs1569492113	AACATTGGGTTGCCTGGGTTGCCTGGAGAAAAAGGA>-	Pathogenic	Coding sequence variant, inframe deletion, 5 prime UTR variant
rs1569492120	->C	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569492122	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569492147	ATACAGG>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569492161	G>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569492172	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569492951	G>A	Pathogenic	Splice acceptor variant
rs1569492996	ATTTCCATTCCTGGACCTCCTGGA>-	Pathogenic	Coding sequence variant, inframe deletion, 5 prime UTR variant
rs1569493051	C>G	Pathogenic	Intron variant
rs1569493132	GATATGTGA>-	Pathogenic	Coding sequence variant, inframe deletion, 5 prime UTR variant
rs1569493161	->CAAG	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569493656	->G	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569493662	G>C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569493679	G>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569493892	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569494000	->TC	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569494061	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569494262	T>G	Pathogenic	Intron variant
rs1569494267	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569494281	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569494302	AATATAGGG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1569494304	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs1569494322	G>T	Pathogenic	Coding sequence variant, missense variant
rs1569494351	G>C	Pathogenic	Coding sequence variant, missense variant
rs1569494378	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569494386	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569494393	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569494852	A>G,T	Pathogenic	Splice acceptor variant
rs1569494882	GCCTGGCTTGCCTGGTAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs1569494903	GTGATG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1569495038	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569495049	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1569495747	A>G	Pathogenic	Intron variant
rs1569495758	T>G	Pathogenic	Coding sequence variant, stop gained
rs1569495819	G>T	Pathogenic	Coding sequence variant, missense variant
rs1569496997	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569497013	ATA>T	Pathogenic	Coding sequence variant, frameshift variant
rs1569497022	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569497030	T>G	Pathogenic	Splice donor variant
rs1569497679	GGTTTACATGGAATACC>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1569497680	GTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTGG>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1569497690	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569497695	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569497722	CAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGCAGG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1569497723	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569497759	G>T	Pathogenic	Coding sequence variant, stop gained
rs1569497776	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs1569498110	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569498133	GTGGTGTACCTG>T	Pathogenic	Coding sequence variant, frameshift variant
rs1569498140	G>C	Pathogenic	Coding sequence variant, missense variant
rs1569498249	G>T	Pathogenic	Coding sequence variant, stop gained
rs1569498254	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569498258	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569498271	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1569498606	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569498623	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569498624	ACCTGGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569498896	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569498904	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569499001	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569499010	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1569499015	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569499057	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569499064	G>A	Pathogenic	Splice donor variant
rs1569504056	G>A	Pathogenic	Splice acceptor variant
rs1569504068	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569504072	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1569504092	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569505374	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1569505385	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs1569505525	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569505535	G>T	Pathogenic	Coding sequence variant, missense variant
rs1569505604	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569505613	T>A	Pathogenic	Splice donor variant
rs1569505614	A>T	Pathogenic	Intron variant
rs1569505747	TGGAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569505758	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569505771	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1569505800	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569505812	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569506917	A>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1569506954	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569507398	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs1569507409	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs1569507535	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569507550	CCTGGCCAGCCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion, genic downstream transcript variant
rs1569507572	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569507577	GG>-	Pathogenic	Coding sequence variant, splice donor variant, genic downstream transcript variant
rs1569508169	G>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569508352	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569508360	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569508366	->CA	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569508382	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569508899	A>G	Pathogenic-likely-pathogenic	Genic downstream transcript variant, intron variant
rs1569508938	CGGCTGGCAGCTGC>TTTCAT	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569508951	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569508998	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1569508999	A>C,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, intron variant
rs1569509196	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509201	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509203	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1569509210	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509214	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509224	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509234	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509236	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1569509257	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509301	A>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1569509307	->G	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509315	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509333	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509336	T>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509352	C>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509371	T>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1569509492	A>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509494	T>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1603276159	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603276180	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603278993	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603279005	T>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1603279819	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1603282474	G>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1603283547	G>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1603283567	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603286154	G>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1603287481	->AT	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1603287820	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1603290097	C>G	Likely-pathogenic	Intron variant
rs1603290131	->A	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1603290148	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603290169	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603290199	CAGGGC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1603290681	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603290763	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603290796	C>T	Pathogenic	Coding sequence variant, stop gained
rs1603291770	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603292021	CTG>-	Pathogenic	Coding sequence variant, inframe indel
rs1603292081	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1603292422	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603293553	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1603293570	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603293605	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603293624	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1603293639	T>A	Pathogenic	Splice donor variant
rs1603297223	T>G	Pathogenic	Coding sequence variant, stop gained
rs1603297305	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603297334	G>T	Pathogenic	Coding sequence variant, missense variant
rs1603297903	G>C	Pathogenic	Splice donor variant
rs1603298378	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603298869	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603298993	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603306716	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603306718	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603310370	C>T	Pathogenic	Coding sequence variant, stop gained
rs1603310380	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603311030	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603318143	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603318154	AGGA>GGG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603323174	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603323278	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1603323355	T>G	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1603323412	AA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603326397	->TTAG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603326561	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603328025	CA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603328372	G>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018772	hsa-miR-335-5p	Microarray	18185580
MIRT030043	hsa-miR-26b-5p	Microarray	19088304
MIRT053738	hsa-miR-29b-3p	Microarray	22942087
MIRT450890	hsa-miR-199a-3p	PAR-CLIP	22100165
MIRT450889	hsa-miR-199b-3p	PAR-CLIP	22100165
MIRT450888	hsa-miR-3129-5p	PAR-CLIP	22100165
MIRT450887	hsa-miR-802	PAR-CLIP	22100165
MIRT450886	hsa-miR-936	PAR-CLIP	22100165
MIRT450885	hsa-miR-4797-3p	PAR-CLIP	22100165
MIRT450884	hsa-miR-4264	PAR-CLIP	22100165
MIRT450883	hsa-miR-3171	PAR-CLIP	22100165
MIRT450882	hsa-miR-222-5p	PAR-CLIP	22100165
MIRT450890	hsa-miR-199a-3p	PAR-CLIP	22100165
MIRT450889	hsa-miR-199b-3p	PAR-CLIP	22100165
MIRT450888	hsa-miR-3129-5p	PAR-CLIP	22100165
MIRT450887	hsa-miR-802	PAR-CLIP	22100165
MIRT450886	hsa-miR-936	PAR-CLIP	22100165
MIRT450885	hsa-miR-4797-3p	PAR-CLIP	22100165
MIRT450884	hsa-miR-4264	PAR-CLIP	22100165
MIRT450883	hsa-miR-3171	PAR-CLIP	22100165
MIRT450882	hsa-miR-222-5p	PAR-CLIP	22100165
MIRT902948	hsa-let-7a	CLIP-seq
MIRT902949	hsa-let-7b	CLIP-seq
MIRT902950	hsa-let-7c	CLIP-seq
MIRT902951	hsa-let-7d	CLIP-seq
MIRT902952	hsa-let-7e	CLIP-seq
MIRT902953	hsa-let-7f	CLIP-seq
MIRT902954	hsa-let-7g	CLIP-seq
MIRT902955	hsa-let-7i	CLIP-seq
MIRT902956	hsa-miR-1270	CLIP-seq
MIRT902957	hsa-miR-202	CLIP-seq
MIRT902958	hsa-miR-2110	CLIP-seq
MIRT902959	hsa-miR-29a	CLIP-seq
MIRT902960	hsa-miR-29b	CLIP-seq
MIRT902961	hsa-miR-29c	CLIP-seq
MIRT902962	hsa-miR-3144-5p	CLIP-seq
MIRT902963	hsa-miR-3150a-3p	CLIP-seq
MIRT902964	hsa-miR-3191	CLIP-seq
MIRT902965	hsa-miR-3653	CLIP-seq
MIRT902966	hsa-miR-3923	CLIP-seq
MIRT902967	hsa-miR-4259	CLIP-seq
MIRT902968	hsa-miR-4310	CLIP-seq
MIRT902969	hsa-miR-432	CLIP-seq
MIRT902970	hsa-miR-4427	CLIP-seq
MIRT902971	hsa-miR-4434	CLIP-seq
MIRT902972	hsa-miR-4452	CLIP-seq
MIRT902973	hsa-miR-4458	CLIP-seq
MIRT902974	hsa-miR-4500	CLIP-seq
MIRT902975	hsa-miR-4516	CLIP-seq
MIRT902976	hsa-miR-4531	CLIP-seq
MIRT902977	hsa-miR-4652-5p	CLIP-seq
MIRT902978	hsa-miR-4663	CLIP-seq
MIRT902979	hsa-miR-4668-5p	CLIP-seq
MIRT902980	hsa-miR-4680-3p	CLIP-seq
MIRT902981	hsa-miR-561	CLIP-seq
MIRT902982	hsa-miR-600	CLIP-seq
MIRT902983	hsa-miR-620	CLIP-seq
MIRT902984	hsa-miR-628-5p	CLIP-seq
MIRT902985	hsa-miR-767-5p	CLIP-seq
MIRT902986	hsa-miR-98	CLIP-seq
MIRT902987	hsa-miR-371b-5p	CLIP-seq
MIRT902988	hsa-miR-4681	CLIP-seq
MIRT902989	hsa-miR-4698	CLIP-seq
MIRT902990	hsa-miR-548a-3p	CLIP-seq
MIRT902991	hsa-miR-548e	CLIP-seq
MIRT902992	hsa-miR-548f	CLIP-seq
MIRT902993	hsa-miR-888	CLIP-seq
MIRT1967763	hsa-miR-2467-3p	CLIP-seq
MIRT1967764	hsa-miR-3159	CLIP-seq
MIRT902967	hsa-miR-4259	CLIP-seq
MIRT1967765	hsa-miR-4418	CLIP-seq
MIRT1967766	hsa-miR-4717-5p	CLIP-seq
MIRT1967767	hsa-miR-509-3-5p	CLIP-seq
MIRT1967768	hsa-miR-509-5p	CLIP-seq
MIRT902981	hsa-miR-561	CLIP-seq
MIRT902958	hsa-miR-2110	CLIP-seq
MIRT902959	hsa-miR-29a	CLIP-seq
MIRT902960	hsa-miR-29b	CLIP-seq
MIRT902961	hsa-miR-29c	CLIP-seq
MIRT902962	hsa-miR-3144-5p	CLIP-seq
MIRT902963	hsa-miR-3150a-3p	CLIP-seq
MIRT902964	hsa-miR-3191	CLIP-seq
MIRT902967	hsa-miR-4259	CLIP-seq
MIRT902977	hsa-miR-4652-5p	CLIP-seq
MIRT902981	hsa-miR-561	CLIP-seq
MIRT902985	hsa-miR-767-5p	CLIP-seq
MIRT2506624	hsa-miR-1323	CLIP-seq
MIRT902987	hsa-miR-371b-5p	CLIP-seq
MIRT902972	hsa-miR-4452	CLIP-seq
MIRT2506625	hsa-miR-4522	CLIP-seq
MIRT902988	hsa-miR-4681	CLIP-seq
MIRT902989	hsa-miR-4698	CLIP-seq
MIRT2506626	hsa-miR-4753-3p	CLIP-seq
MIRT902990	hsa-miR-548a-3p	CLIP-seq
MIRT2506627	hsa-miR-548c-3p	CLIP-seq
MIRT902991	hsa-miR-548e	CLIP-seq
MIRT902992	hsa-miR-548f	CLIP-seq
MIRT2506628	hsa-miR-548o	CLIP-seq
MIRT2506629	hsa-miR-582-3p	CLIP-seq
MIRT902993	hsa-miR-888	CLIP-seq
MIRT2506630	hsa-miR-942	CLIP-seq
MIRT2678416	hsa-miR-1285	CLIP-seq
MIRT2506624	hsa-miR-1323	CLIP-seq
MIRT2678417	hsa-miR-3187-5p	CLIP-seq
MIRT902987	hsa-miR-371b-5p	CLIP-seq
MIRT2678418	hsa-miR-410	CLIP-seq
MIRT902972	hsa-miR-4452	CLIP-seq
MIRT2506625	hsa-miR-4522	CLIP-seq
MIRT902988	hsa-miR-4681	CLIP-seq
MIRT902989	hsa-miR-4698	CLIP-seq
MIRT2678419	hsa-miR-4699-3p	CLIP-seq
MIRT2506626	hsa-miR-4753-3p	CLIP-seq
MIRT2678420	hsa-miR-4775	CLIP-seq
MIRT2678421	hsa-miR-513a-3p	CLIP-seq
MIRT902990	hsa-miR-548a-3p	CLIP-seq
MIRT2506627	hsa-miR-548c-3p	CLIP-seq
MIRT902991	hsa-miR-548e	CLIP-seq
MIRT902992	hsa-miR-548f	CLIP-seq
MIRT2506628	hsa-miR-548o	CLIP-seq
MIRT2506629	hsa-miR-582-3p	CLIP-seq
MIRT2678422	hsa-miR-590-3p	CLIP-seq
MIRT2678423	hsa-miR-612	CLIP-seq
MIRT902993	hsa-miR-888	CLIP-seq
MIRT2506630	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005576	Component	Extracellular region	TAS
GO:0005587	Component	Collagen type IV trimer	IEA
GO:0005604	Component	Basement membrane	IBA	21873635
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	28675934
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0031594	Component	Neuromuscular junction	IEA
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	28344315, 28675934

Other IDs

• MIM: 303630
• HGNC: 2207
• e!Ensembl: ENSG00000188153

Protein

• UniProt ID: P29400
• Protein name: Collagen alpha-5(IV) chain
• Protein function: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.
• PDB: 5NAZ, 6WKU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	33 → 118	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	81 → 164	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	165 → 223	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	283 → 352	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	391 → 449	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	491 → 550	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	598 → 659	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	659 → 706	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	706 → 766	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	754 → 818	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	796 → 854	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	854 → 909	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	896 → 958	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	960 → 1019	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1013 → 1072	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1074 → 1133	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1128 → 1189	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1190 → 1248	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1246 → 1315	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1400 → 1460	Collagen triple helix repeat (20 copies)	Repeat
  PF01413	C4	1462 → 1569	C-terminal tandem repeated domain in type 4 procollagen	Domain
  PF01413	C4	1572 → 1683	C-terminal tandem repeated domain in type 4 procollagen	Domain

• Sequence:

  MKLRGVSLAAGLFLLALSLWGQPAEAAACYGCSPGSKCDCSGIKGEKGERGFPGLEGHPG
  LPGFPGPEGPPGPRGQKGDDGIPGPPGPKGIRGPPGLPGFPGTPGLPGMPGHDGAPGPQG
  IPGCNGTKGERGFPGSPGFPGLQGPPGPPGIPGMKGEPGSIIMSSLPGPKGNPGYPGPPG
  IQGLPGPTGIPGPIGPPGPPGLMGPPGPPGLPGPKGNMGLNFQGPKGEKGEQGLQGPPGP
  PGQISEQKRPIDVEFQKGDQGLPGDRGPPGPPGIRGPPGPPGGEKGEKGEQGEPGKRGKP
  GKDGENGQPGIPGLPGDPGYPGEPGRDGEKGQKGDTGPPGPPGLVIPRPGTGITIGEKGN
  IGLPGLPGEKGERGFPGIQGPPGLPGPPGAAVMGPPGPPGFPGERGQKGDEGPPGISIPG
  PPGLDGQPGAPGLPGPPGPAGPHIPPSDEICEPGPPGPPGSPGDKGLQGEQGVKGDKGDT
  CFNCIGTGISGPPGQPGLPGLPGPPGSLGFPGQKGEKGQAGATGPKGLPGIPGAPGAPGF
  PGSKGEPGDILTFPGMKGDKGELGSPGAPGLPGLPGTPGQDGLPGLPGPKGEPGGITFKG
  ERGPPGNPGLPGLPGNIGPMGPPGFGPPGPVGEKGIQGVAGNPGQPGIPGPKGDPGQTIT
  QPGKPGLPGNPGRDGDVGLPGDPGLPGQPGLPGIPGSKGEPGIPGIGLPGPPGPKGFPGI
  PGPPGAPGTPGRIGLEGPPGPPGFPGPKGEPGFALPGPPGPPGLPGFKGALGPKGDRGFP
  GPPGPPGRTGLDGLPGPKGDVGPNGQPGPMGPPGLPGIGVQGPPGPPGIPGPIGQPGLHG
  IPGEKGDPGPPGLDVPGPPGERGSPGIPGAPGPIGPPGSPGLPGKAGASGFPGTKGEMGM
  MGPPGPPGPLGIPGRSGVPGLKGDDGLQGQPGLPGPTGEKGSKGEPGLPGPPGPMDPNLL
  GSKGEKGEPGLPGIPGVSGPKGYQGLPGDPGQPGLSGQPGLPGPPGPKGNPGLPGQPGLI
  GPPGLKGTIGDMGFPGPQGVEGPPGPSGVPGQPGSPGLPGQKGDKGDPGISSIGLPGLPG
  PKGEPGLPGYPGNPGIKGSVGDPGLPGLPGTPGAKGQPGLPGFPGTPGPPGPKGISGPPG
  NPGLPGEPGPVGGGGHPGQPGPPGEKGKPGQDGIPGPAGQKGEPGQPGFGNPGPPGLPGL
  SGQKGDGGLPGIPGNPGLPGPKGEPGFHGFPGVQGPPGPPGSPGPALEGPKGNPGPQGPP
  GRPGLPGPEGPPGLPGNGGIKGEKGNPGQPGLPGLPGLKGDQGPPGLQGNPGRPGLNGMK
  GDPGLPGVPGFPGMKGPSGVPGSAGPEGEPGLIGPPGPPGLPGPSGQSIIIKGDAGPPGI
  PGQPGLKGLPGPQGPQGLPGPTGPPGDPGRNGLPGFDGAGGRKGDPGLPGQPGTRGLDGP
  PGPDGLQGPPGPPGTSSVAHGFLITRHSQTTDAPQCPQGTLQVYEGFSLLYVQGNKRAHG
  QDLGTAGSCLRRFSTMPFMFCNINNVCNFASRNDYSYWLSTPEPMPMSMQPLKGQSIQPF
  ISRCAVCEAPAVVIAVHSQTIQIPHCPQGWDSLWIGYSFMMHTSAGAEGSGQALASPGSC
  LEEFRSAPFIECHGRGTCNYYANSYSFWLATVDVSDMFSKPQSETLKAGDLRTRISRCQV
  CMKRT

• Sequence length: 1685

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Relaxin signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Protein digestion and absorption
Amoebiasis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer

Reactome:

Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Anchoring fibril formation
Crosslinking of collagen fibrils
Laminin interactions
Non-integrin membrane-ECM interactions
NCAM1 interactions
Collagen chain trimerization

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Alport syndrome	Alport Syndrome, Alport Syndrome, Autosomal Dominant, Alport Syndrome, Autosomal Recessive, ALPORT SYNDROME 1, X-LINKED	rs104886303, rs121912858, rs121912859, rs121912860, rs121912861, rs121912862, rs121912824, rs121912825, rs1325453230, rs121912826, rs267606745, rs104886440, rs104886071, rs104886079, rs104886101, rs281874670, rs281874673, rs104886142, rs104886189, rs104886210, rs104886247, rs104886286, rs281874753, rs267599231, rs876657397, rs1553676221, rs1057519376, rs1057519377, rs201697532, rs374815903, rs200287952, rs1057516204, rs200672668, rs375040636, rs1060499654, rs1114167371, rs1131691738, rs1553627655, rs1363277825, rs1553690565, rs1175052474, rs748901402, rs1553641611, rs1189502123, rs534522842, rs1553683757, rs375450996, rs745672795, rs1553759430, rs868002181, rs756231749, rs35138315, rs1553764454, rs371334239, rs1553611876, rs1553612433, rs1553622675, rs1553625684, rs1553639043, rs773515249, rs1553760558, rs1556420349, rs1553612309, rs1206142672, rs369922627, rs1553624127, rs778043831, rs1553641728, rs768003309, rs1553643669, rs1553644402, rs1553658892, rs954701825, rs1553669704, rs779930511, rs926605269, rs1553612499, rs891854419, rs755927061, rs762518741, rs775373641, rs1553751122, rs1553611947, rs988439345, rs1274459294, rs1553755124, rs772958162, rs1553755767, rs993103826, rs1196996393, rs1553762113, rs749383170, rs1446915781, rs1553682895, rs1553683192, rs1489351299, rs1553688712, rs748473278, rs1553690604, rs1553696207, rs937550597, rs1553611909, rs1203564054, rs773081522, rs1491486533, rs1553688330, rs1553753119, rs1422638161, rs754669149, rs1553712110, rs1553757096, rs1396602090, rs1553758919, rs1553762314, rs202001097, rs749390823, rs1553750900, rs1346138010, rs1553765265, rs1369097739, rs1469479748, rs748026887, rs1553766404, rs1444785718, rs1553760257, rs766306957, rs371172166, rs766900945, rs1553762279, rs769783985, rs201648982, rs1553762936, rs781566652, rs769863513, rs867868993, rs760846085, rs1351781261, rs1553676230, rs1553681714, rs1553688696, rs1201925443, rs1553725815, rs1553750572, rs1553751120, rs1553752199, rs756133651, rs1158937060, rs1553758893, rs1553759476, rs1306992119, rs1553759665, rs1440033157, rs1553760802, rs1445615417, rs759873621, rs1553766735, rs1559617617, rs1026613471, rs1559882199, rs1559395617, rs772708743, rs1040287646, rs1241404192, rs1559873550, rs1569492951, rs1569494378, rs1559394354, rs1559455617, rs1559563141, rs1559563525, rs1559594442, rs1559606445, rs1559620132, rs1005389790, rs923865420, rs1559644463, rs1559646395, rs1559890352, rs983885088, rs1559909384, rs1559914770, rs1559628183, rs368434069, rs1559913871, rs1559878862, rs1575895541, rs1569492161, rs1574803132, rs1271416659, rs1575714693, rs1576207007, rs1576428862, rs1576457876, rs760795817, rs1574699806, rs779575469, rs1399954090, rs1574813382, rs1574823172, rs1574823188, rs1574813350, rs1574658390, rs1576129421, rs1574782406, rs1453590085, rs750308686, rs1574701767, rs1574728278, rs1574786225, rs1603290681, rs1574698507, rs750345987, rs1574767962, rs141127013, rs1575696646, rs1003748020, rs1576571835, rs1576812577, rs1207493576, rs1574681401, rs1363441287, rs1247804051, rs1574745989, rs1574782666, rs1402894646, rs746766677, rs1574803208, rs1305836268, rs2073752422, rs2071916145, rs1974295317, rs759043857, rs2073446714, rs1363058249	25572247, 30582011, 14514738, 14993485, 23085274, 29270492, 16301374, 27796712, 15153557, 27725546, 28542346, 10563487, 14514738, 1598909, 11004279, 15954103, 17396119, 12436246, 27859054, 8651296, 9195222, 10684360, 11223851, 24033287, 1352287, 20378821, 27725546, 24854265, 10563487, 1363780, 8829632, 26934356, 8940267, 17660027, 24522658, 18616531, 19919694, 10094548, 24304881, 8406498, 10862091, 8648925, 9452056, 7599631, 10561141, 19965530, 9150741, 26809805, 7853788, 21332469, 1376965, 14514738, 9848783, 7969679, 23732293, 21143337, 16941480, 28013382, 25307721, 12105244, 15780079, 24337245, 26168235, 26581810, 19693995, 11462238, 8651292, 26866448, 23085274, 1672282, 28570636, 10955921, 21505094, 8081393, 22921432
Alport syndrome, x-linked	Alport Syndrome, X-Linked, X-linked Alport syndrome, X-linked Alport syndrome-diffuse leiomyomatosis	rs104886229, rs104886121, rs104886091, rs104886043, rs104886303, rs104886308, rs104886050, rs104886047, rs281874669, rs281874722, rs104886414, rs281874755, rs104886429, rs104886431, rs104886059, rs104886060, rs104886061, rs104886434, rs104886063, rs281874759, rs104886066, rs104886440, rs281874763, rs104886071, rs104886073, rs281874768, rs104886079, rs104886082, rs104886086, rs104886088, rs104886092, rs104886096, rs104886094, rs104886107, rs281874659, rs104886100, rs104886101, rs104886111, rs104886112, rs104886319, rs104886113, rs104886116, rs281874667, rs281874668, rs104886118, rs281874670, rs104886122, rs281874673, rs104886129, rs281874674, rs281874675, rs104886130, rs104886131, rs104886142, rs104886144, rs104886147, rs104886153, rs104886157, rs104886341, rs104886167, rs104886344, rs104886163, rs281874688, rs281874689, rs104886174, rs104886183, rs104886356, rs281874696, rs104886185, rs281874697, rs104886188, rs104886189, rs281874703, rs104886363, rs104886195, rs104886371, rs104886374, rs104886210, rs104886214, rs104886217, rs104886213, rs104886219, rs104886221, rs281874712, rs104886225, rs281874713, rs104886228, rs104886388, rs104886236, rs104886244, rs104886251, rs104886253, rs104886255, rs104886261, rs281874724, rs1556453243, rs104886269, rs587776402, rs587776403, rs104886276, rs104886279, rs104886413, rs104886293, rs281874743, rs104886287, rs104886288, rs281874747, rs104886298, rs104886302, rs281874753, rs104886306, rs281874738, rs281874761, rs281874671, rs397515496, rs797045035, rs869025333, rs869025334, rs104886338, rs869025331, rs869025332, rs878853089, rs878853114, rs886039890, rs886039886, rs1057516187, rs1057516203, rs1060499694, rs1060499710, rs1556451235, rs1131691795, rs1131692246, rs1556403112, rs1556404985, rs1556407064, rs281874702, rs104886282, rs1556411631, rs1556404027, rs1556407078, rs1556453276, rs1556419850, rs1556405010, rs1556405926, rs1556406001, rs1556406859, rs1556410516, rs1556419831, rs1556419869, rs1556419895, rs1556420349, rs1556420358, rs1556439394, rs1569509234, rs1569505374, rs1569505771, rs760109866, rs104886074, rs1569489353, rs1569490592, rs1569489328, rs1569505604, rs1569507535, rs1569469409, rs1569488426, rs1569488434, rs1569488437, rs767619131, rs104886054, rs104886443, rs1569491107, rs1569491399, rs1569491718, rs1210495852, rs1569493670, rs1569494267, rs867625069, rs886041509, rs1569497776, rs104886368, rs104886372, rs1569498896, rs1569505758, rs606231372, rs1569509257, rs1569490379, rs1569490932, rs1569492147, rs1569494061, rs1569494304, rs1569497690, rs1569498623, rs1569504056, rs1569505613, rs1569499015, rs1569493662, rs1569508360, rs1569497030, rs1569504068, rs1603290169, rs1603292422, rs1603297305, rs1603310370, rs104886235, rs1603310380, rs1603323174, rs104886424, rs1603279819, rs1603293624, rs1603278993, rs1603290131, rs1603279005, rs281874684, rs1603293639, rs1603328372, rs1556446493, rs1603323278, rs1603276159, rs1603276180, rs1603282474, rs1603287820, rs759179999, rs1603290148, rs1603290199, rs1603290681, rs281874683, rs1603291770, rs1603292021, rs1603293553, rs1603293570, rs1603293605, rs1291655627, rs1603297334, rs1603311030, rs1603323355, rs1603326397, rs104886078, rs1603326561, rs281874734, rs1603283567, rs1603286154, rs1603290763, rs1603290796, rs770451831, rs1603298378, rs1603298869, rs1603298993, rs1603306716, rs1603306718, rs1603318143, rs1603318154, rs1603328025, rs104886190, rs2068061224, rs750941179, rs2068718016, rs2067083148, rs2066231013, rs2066342176, rs1569494281, rs2068082287, rs2068126851, rs2068537554	14514738
Benign hematuria	NON RARE IN EUROPE: Benign familial hematuria	rs121912860, rs121912861, rs121912826, rs1553676221, rs869025329, rs869025328, rs869025326, rs869025327, rs374815903, rs200287952, rs1553690565, rs35138315, rs773081522, rs1559438651, rs772708743, rs923865420, rs1559742015, rs1559643753, rs1574813350, rs760795817
Focal segmental glomerulosclerosis	Focal Segmental Glomerulosclerosis, Not Otherwise Specified	rs267606877, rs267607183, rs267606878, rs267606879, rs267606880, rs121907909, rs74315343, rs121908415, rs121908416, rs121908417, rs1554181304, rs121434390, rs121434392, rs121434393, rs121434394, rs121434395, rs387906807, rs778868018, rs397517920, rs386833865, rs1131692055, rs587777741, rs1184529372, rs76492282, rs75462234, rs202128397, rs879255251, rs879255252, rs749740335, rs138656762, rs869025541, rs878853159, rs1393955970, rs748812981, rs1566778651, rs866294686, rs1566777560, rs1566778676, rs1568723797, rs1568725026, rs1569534160, rs1589475328, rs912928648, rs79555199, rs1595166085, rs1596351849, rs1596861969, rs1595163730, rs1588200023, rs779586424, rs759356936, rs1451194842, rs1317776692, rs759055242, rs2066568818	29270492
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hematuria	Hematuria, Benign Familial, Familial hematuria	rs104886308, rs1131692060, rs1306992119	14514738
Hypertension	Hypertensive disease	rs13306026, rs13333226
Hypoparathyroidism	Hypoparathyroidism	rs104893959, rs104894271, rs2134093224, rs104894272, rs6256, rs193922430, rs886037646, rs1554103179
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Kidney disease	Chronic kidney disease stage 5, Chronic Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Renal insufficiency	Renal Insufficiency	rs1596536873
Thoracic aortic aneurysm and aortic dissection	Familial thoracic aortic aneurysm and aortic dissection	rs121964962, rs121964964, rs5742905, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs587776600, rs121908172, rs121908173, rs121918714, rs104893809, rs104893815, rs104893810, rs104893811, rs104893816, rs104893817, rs104893819, rs111854391, rs113605875, rs111426349, rs267606902, rs121913552, rs267606796, rs137854458, rs137854461, rs137854463, rs137854464, rs137854466, rs112989722, rs137854476, rs137854477, rs137854478, rs137854479, rs137854480, rs137854485, rs786200923, rs113485686, rs397509370, rs121912927, rs121912923, rs121912926, rs121434526, rs121434527, rs121434528, rs387906592, rs387906606, rs387906623, rs387906697, rs387906781, rs387906782, rs387906850, rs587776881, rs387906853, rs193922183, rs193922185, rs193921256, rs112202622, rs193922198, rs193922204, rs113871094, rs147195031, rs193922236, rs397514558, rs397514590, rs397515757, rs113812345, rs25403, rs397515766, rs397515767, rs25404, rs397515774, rs397515784, rs397515788, rs397515793, rs397515805, rs397515808, rs397515811, rs397515812, rs111231312, rs113905529, rs113249837, rs397515821, rs397515823, rs397515829, rs111687884, rs113080385, rs397515848, rs397515854, rs397515867, rs397516685, rs112901682, rs397515330, rs587779450, rs587779461, rs587779471, rs587779476, rs587779478, rs587779479, rs587779482, rs587779490, rs587779504, rs397509372, rs587779518, rs587779534, rs587779536, rs587779540, rs587779550, rs587779535, rs587779563, rs587779583, rs587779584, rs587779596, rs587779604, rs587779609, rs587779500, rs587779620, rs587779625, rs587779626, rs587779541, rs587779650, rs587779671, rs112371422, rs587779685, rs587779687, rs587779691, rs587779692, rs587779695, rs587779533, rs587779706, rs587779712, rs587782948, rs587782977, rs587782979, rs587781259, rs767864243, rs146579504, rs864309481, rs370547023, rs727503476, rs727503472, rs727504292, rs727503054, rs140593, rs727503057, rs727505006, rs727504421, rs730880223, rs730880102, rs112645512, rs730880097, rs730880214, rs771298943, rs764160782, rs770095972, rs781444670, rs794727798, rs149119723, rs794728040, rs794728054, rs794728057, rs794728060, rs112602953, rs794728021, rs794728288, rs794728283, rs794728281, rs794728280, rs794728337, rs112118237, rs794728336, rs794728270, rs794728319, rs794728262, rs794728253, rs76702162, rs794728335, rs794728334, rs763091520, rs761857514, rs794728234, rs140627, rs140630, rs794728228, rs794728216, rs763449629, rs794728208, rs794728204, rs794728306, rs794728203, rs794728305, rs794728322, rs794728195, rs794728194, rs794728190, rs794728188, rs113422242, rs794728166, rs794728325, rs794728165, rs794728162, rs112660651, rs796051885, rs863223796, rs863223792, rs863223847, rs863223852, rs863223854, rs863223444, rs863223478, rs863223473, rs863223829, rs760079636, rs863223818, rs863223750, rs863223762, rs863223756, rs768713596, rs745672741, rs863223759, rs863223760, rs863223737, rs863223738, rs863223739, rs863223740, rs863223768, rs863223754, rs372010465, rs148865119, rs863224935, rs864622754, rs869025531, rs869025537, rs869025494, rs112642323, rs869025414, rs869025411, rs869025418, rs869312903, rs876657852, rs878854610, rs878854611, rs878853686, rs878853689, rs878853682, rs745409628, rs794728044, rs886038853, rs886038952, rs863223845, rs886039106, rs886038783, rs886038919, rs886038954, rs886038978, rs746972765, rs886038870, rs886038869, rs886038975, rs886038786, rs886038955, rs886038930, rs886039092, rs886039158, rs886038894, rs886038949, rs886038967, rs886038976, rs886039047, rs886038957, rs794728241, rs886038959, rs886038790, rs886039167, rs886038838, rs886038979, rs886039120, rs886038970, rs886038940, rs886039035, rs886039196, rs886038802, rs886038956, rs886038996, rs886038877, rs886039054, rs886039038, rs886038984, rs886038972, rs886039034, rs886039036, rs886039072, rs886039066, rs886038987, rs565513365, rs886039551, rs886039492, rs140583, rs886039550, rs886037823, rs886039820, rs886040966, rs886041046, rs886044547, rs755952006, rs1057518075, rs397514037, rs1057518653, rs1057521150, rs1057521106, rs1057524810, rs1057523796, rs1057523647, rs1057521101, rs1060501984, rs104893807, rs1060502045, rs1060502046, rs1060502827, rs1555399379, rs1060501035, rs1555412070, rs1555394151, rs1060501051, rs753486471, rs1060500770, rs1060500766, rs1060501092, rs1060501055, rs1060501021, rs1060501038, rs1060500773, rs1064796256, rs1064797017, rs1064794130, rs1064796636, rs1064794789, rs1555414236, rs757106110, rs1085307921, rs1085308004, rs1131691996, rs1131691766, rs363804, rs397515764, rs1555394195, rs113603747, rs528689432, rs587782947, rs1553303213, rs1553630171, rs1555360368, rs1555393875, rs1555395256, rs1555396427, rs1555397548, rs1006530719, rs587779704, rs587779578, rs104893812, rs1553630235, rs1553630289, rs1553630426, rs1553631693, rs1554122857, rs1057524497, rs1554700672, rs1555395486, rs1555396998, rs1555360229, rs1555412069, rs1555413579, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555400373, rs1555405031, rs1555397008, rs1555405108, rs1015798796, rs1553631968, rs1555394904, rs1553303352, rs1553508338, rs1555398835, rs1555401011, rs1555395826, rs1555399481, rs1347651454, rs1553508039, rs1553507180, rs1553507867, rs1553808296, rs727503475, rs1554799402, rs1554701881, rs1554702262, rs1555393516, rs1555393856, rs1555394142, rs1555395209, rs1555395742, rs1555396638, rs1555398830, rs1555399166, rs1555399387, rs1555400378, rs1555401687, rs1555459260, rs1433428588, rs1401035675, rs1553292123, rs1553303357, rs1553303745, rs1393544920, rs1553507574, rs1553507991, rs587779433, rs587779458, rs1553508957, rs1553509869, rs1554122896, rs1554123064, rs1554787526, rs1554792869, rs1554805638, rs1554726251, rs1554698926, rs1554700603, rs869025352, rs1555360047, rs1555393539, rs1555393823, rs1555393837, rs1555393844, rs1555393871, rs1555393880, rs1555394146, rs1555394149, rs1555394196, rs1555394396, rs1555394400, rs1555394433, rs112550005, rs1555394566, rs112836174, rs1555394781, rs1555394927, rs1555395002, rs1555395206, rs794728247, rs1304643689, rs1555395461, rs1555395652, rs1555395658, rs1555395840, rs765387131, rs1555396429, rs1555396760, rs1555396835, rs1555397000, rs1555397014, rs1555397016, rs1555397148, rs1555397154, rs778710767, rs1555397557, rs1555397646, rs1555397704, rs1555398143, rs1555398272, rs1555398406, rs372404949, rs1555398680, rs1555398681, rs1555398828, rs1057523406, rs1555399143, rs1555399147, rs1555399205, rs1555399257, rs1555399361, rs1555399388, rs1555399764, rs1555399835, rs1555399839, rs1555400285, rs1555401686, rs1555401699, rs363852, rs1555404819, rs1555405039, rs1555405056, rs1555405534, rs1555407416, rs1555405092, rs730880215, rs1557179684, rs1555395980, rs1555396789, rs1555399816, rs1555393647, rs1555395645, rs1556337063, rs1553507614, rs1553509391, rs1553630438, rs1553630274, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555395663, rs1555397652, rs1555398283, rs1445085747, rs1554702463, rs363810, rs363806, rs1555395820, rs1555394189, rs1555394397, rs1555394399, rs1555394783, rs363815, rs1555395267, rs111239111, rs1555396993, rs1060501076, rs113693945, rs1555398404, rs1555398625, rs1555399162, rs1555399210, rs193922188, rs1060501017, rs1060501041, rs1555400049, rs1555400278, rs1555400279, rs1156747241, rs1555400372, rs1555400387, rs752010116, rs1555401679, rs1555404810, rs141502207, rs1553292145, rs375737772, rs1566891654, rs1566897374, rs1566905976, rs1566891655, rs1346043320, rs1566999621, rs1567002059, rs1567002115, rs1567003613, rs863223832, rs1566891808, rs1245476075, rs1566890005, rs1352478541, rs1566913670, rs1566894230, rs765692335, rs1566914030, rs1566999458, rs1569482431, rs886039176, rs1566891701, rs1566999423, rs1566999601, rs1566999610, rs1559472349, rs1566891668, rs1566891675, rs1566892872, rs1566898120, rs1566900492, rs1566903914, rs1566904526, rs1555397419, rs1566906506, rs1555398627, rs1566919637, rs869312034, rs1566900540, rs794728192, rs1566938153, rs1566892735, rs1603360542, rs1597516325, rs1597531796, rs755528878, rs1575165264, rs1597512600, rs1597516347, rs1555398144, rs1595942351, rs1595960447, rs1595965925, rs1595965945, rs1576468385, rs1595956832, rs1320208623, rs1575165272, rs1597562812, rs1575166666, rs1588477255, rs794728193, rs1688258933, rs1699392675, rs760797386, rs1699709401, rs1827902114, rs2035418540, rs2043116624, rs1555395745, rs2043594915, rs2043746138, rs2043846274, rs2044515247, rs1291288543, rs373782713, rs2042873946, rs1688274077

Unknown
Disease name	Disease term	dbSNP ID	References
Corneal erosion	Corneal erosion
Diffuse leiomyomatosis	Diffuse leiomyomatosis
Glomerulosclerosis	Focal glomerulosclerosis		29270492
Leiomyoma	Leiomyoma, Epithelioid		17069596
Leiomyosarcoma	Leiomyomatosis, esophageal and vulval, with nephropathy		20951201
Lenticonus	Lenticonus, Anterior lenticonus
Nephritis	Nephritis
Renal glomerular disease	Renal glomerular disease
Renal tubular disorder	Renal tubular disorder
Sensorineural hearing loss	Sensorineural hearing loss, bilateral