VLDLR (very low density lipoprotein receptor)

Gene

• Entrez ID: 7436
• Gene name: Very low density lipoprotein receptor
• Gene symbol: VLDLR
• Synonyms: CAMRQ1, CARMQ1, CHRMQ1, VLDL-R, VLDLRCH
• Chromosome: 9
• Chromosome location: 9p24.2
• Summary: The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338905	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs80338906	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs80338907	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs116306908	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs139671268	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs140526335	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs141850403	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, non coding transcript variant, coding sequence variant
rs397514750	G>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398122380	TACAAGT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs745973997	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs755328835	A>G	Likely-pathogenic	Splice acceptor variant
rs770269674	G>A	Pathogenic	Splice acceptor variant
rs1554621211	GAGTG>-	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, stop gained
rs1563764078	T>C	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018291	hsa-miR-335-5p	Microarray	18185580
MIRT020261	hsa-miR-130b-3p	Sequencing	20371350
MIRT028137	hsa-miR-93-5p	Sequencing	20371350
MIRT054784	hsa-miR-135a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24903309
MIRT713315	hsa-miR-100-3p	HITS-CLIP	19536157
MIRT721847	hsa-miR-4280	HITS-CLIP	19536157
MIRT244826	hsa-miR-1279	HITS-CLIP	19536157
MIRT721846	hsa-miR-5007-3p	HITS-CLIP	19536157
MIRT713314	hsa-miR-3161	HITS-CLIP	19536157
MIRT713313	hsa-miR-2681-5p	HITS-CLIP	19536157
MIRT713315	hsa-miR-100-3p	HITS-CLIP	19536157
MIRT244826	hsa-miR-1279	HITS-CLIP	19536157
MIRT713314	hsa-miR-3161	HITS-CLIP	19536157
MIRT713313	hsa-miR-2681-5p	HITS-CLIP	19536157
MIRT644815	hsa-miR-4686	HITS-CLIP	23824327
MIRT644816	hsa-miR-6072	HITS-CLIP	23824327
MIRT644814	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT644813	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT644812	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT644811	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT644810	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT644809	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT644808	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT644807	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT644806	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT636145	hsa-miR-664a-3p	HITS-CLIP	23824327
MIRT618561	hsa-miR-643	HITS-CLIP	23824327
MIRT618560	hsa-miR-4312	HITS-CLIP	23824327
MIRT618559	hsa-miR-630	HITS-CLIP	23824327
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT630936	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618561	hsa-miR-643	HITS-CLIP	23824327
MIRT618560	hsa-miR-4312	HITS-CLIP	23824327
MIRT618559	hsa-miR-630	HITS-CLIP	23824327
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT630936	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618561	hsa-miR-643	HITS-CLIP	23824327
MIRT618560	hsa-miR-4312	HITS-CLIP	23824327
MIRT618559	hsa-miR-630	HITS-CLIP	23824327
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT107568	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT533233	hsa-miR-338-5p	PAR-CLIP	21572407
MIRT546056	hsa-miR-4433a-5p	PAR-CLIP	21572407
MIRT107578	hsa-miR-5590-5p	PAR-CLIP	21572407
MIRT107574	hsa-miR-4659a-5p	PAR-CLIP	21572407
MIRT107575	hsa-miR-4659b-5p	PAR-CLIP	21572407
MIRT107580	hsa-miR-4433b-5p	PAR-CLIP	21572407
MIRT107572	hsa-miR-676-3p	PAR-CLIP	21572407
MIRT107576	hsa-miR-4776-3p	PAR-CLIP	21572407
MIRT107573	hsa-miR-4646-3p	PAR-CLIP	21572407
MIRT107571	hsa-miR-2355-3p	PAR-CLIP	21572407
MIRT124632	hsa-miR-376c-3p	PAR-CLIP	22012620
MIRT533234	hsa-miR-32-3p	PAR-CLIP	22012620
MIRT533233	hsa-miR-338-5p	PAR-CLIP	22012620
MIRT533232	hsa-miR-5680	PAR-CLIP	22012620
MIRT533231	hsa-miR-3973	PAR-CLIP	22012620
MIRT107536	hsa-miR-520g-3p	PAR-CLIP	22012620
MIRT107537	hsa-miR-520h	PAR-CLIP	22012620
MIRT533230	hsa-miR-607	PAR-CLIP	22012620
MIRT533229	hsa-miR-1305	PAR-CLIP	22012620
MIRT443136	hsa-miR-548a-5p	PAR-CLIP	22100165
MIRT443135	hsa-miR-548ab	PAR-CLIP	22100165
MIRT443134	hsa-miR-548ad-5p	PAR-CLIP	22100165
MIRT443133	hsa-miR-548ae-5p	PAR-CLIP	22100165
MIRT443132	hsa-miR-548ak	PAR-CLIP	22100165
MIRT443131	hsa-miR-548am-5p	PAR-CLIP	22100165
MIRT443130	hsa-miR-548ap-5p	PAR-CLIP	22100165
MIRT443129	hsa-miR-548aq-5p	PAR-CLIP	22100165
MIRT443128	hsa-miR-548ar-5p	PAR-CLIP	22100165
MIRT443127	hsa-miR-548as-5p	PAR-CLIP	22100165
MIRT443126	hsa-miR-548au-5p	PAR-CLIP	22100165
MIRT443125	hsa-miR-548ay-5p	PAR-CLIP	22100165
MIRT443124	hsa-miR-548b-5p	PAR-CLIP	22100165
MIRT443123	hsa-miR-548bb-5p	PAR-CLIP	22100165
MIRT443122	hsa-miR-548c-5p	PAR-CLIP	22100165
MIRT443121	hsa-miR-548d-5p	PAR-CLIP	22100165
MIRT443120	hsa-miR-548h-5p	PAR-CLIP	22100165
MIRT443119	hsa-miR-548i	PAR-CLIP	22100165
MIRT443118	hsa-miR-548j-5p	PAR-CLIP	22100165
MIRT443117	hsa-miR-548o-5p	PAR-CLIP	22100165
MIRT443116	hsa-miR-548w	PAR-CLIP	22100165
MIRT443115	hsa-miR-548y	PAR-CLIP	22100165
MIRT443114	hsa-miR-559	PAR-CLIP	22100165
MIRT443113	hsa-miR-5197-5p	PAR-CLIP	22100165
MIRT443112	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT443111	hsa-miR-3926	PAR-CLIP	22100165
MIRT443110	hsa-miR-548s	PAR-CLIP	22100165
MIRT439303	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT439302	hsa-miR-409-5p	HITS-CLIP	24374217
MIRT439303	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT439302	hsa-miR-409-5p	HITS-CLIP	24374217
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	27418678
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	27418678
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	27418678
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	27418678
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	27418678
MIRT618560	hsa-miR-4312	HITS-CLIP	27418678
MIRT618560	hsa-miR-4312	HITS-CLIP	27418678
MIRT618560	hsa-miR-4312	HITS-CLIP	27418678
MIRT618560	hsa-miR-4312	HITS-CLIP	27418678
MIRT618560	hsa-miR-4312	HITS-CLIP	27418678
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	27418678
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	27418678
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	27418678
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	27418678
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	27418678
MIRT618559	hsa-miR-630	HITS-CLIP	27418678
MIRT618561	hsa-miR-643	HITS-CLIP	27418678
MIRT618561	hsa-miR-643	HITS-CLIP	27418678
MIRT618561	hsa-miR-643	HITS-CLIP	27418678
MIRT618561	hsa-miR-643	HITS-CLIP	27418678
MIRT618561	hsa-miR-643	HITS-CLIP	27418678
MIRT713315	hsa-miR-100-3p	HITS-CLIP	19536157
MIRT721847	hsa-miR-4280	HITS-CLIP	19536157
MIRT244826	hsa-miR-1279	HITS-CLIP	19536157
MIRT721846	hsa-miR-5007-3p	HITS-CLIP	19536157
MIRT713314	hsa-miR-3161	HITS-CLIP	19536157
MIRT713313	hsa-miR-2681-5p	HITS-CLIP	19536157
MIRT713315	hsa-miR-100-3p	HITS-CLIP	19536157
MIRT244826	hsa-miR-1279	HITS-CLIP	19536157
MIRT713314	hsa-miR-3161	HITS-CLIP	19536157
MIRT713313	hsa-miR-2681-5p	HITS-CLIP	19536157
MIRT644815	hsa-miR-4686	HITS-CLIP	23824327
MIRT644816	hsa-miR-6072	HITS-CLIP	23824327
MIRT644814	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT644813	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT644812	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT644811	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT644810	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT644809	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT644808	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT644807	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT644806	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT636145	hsa-miR-664a-3p	HITS-CLIP	23824327
MIRT618561	hsa-miR-643	HITS-CLIP	23824327
MIRT618560	hsa-miR-4312	HITS-CLIP	23824327
MIRT618559	hsa-miR-630	HITS-CLIP	23824327
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT630936	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618561	hsa-miR-643	HITS-CLIP	23824327
MIRT618560	hsa-miR-4312	HITS-CLIP	23824327
MIRT618559	hsa-miR-630	HITS-CLIP	23824327
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT630936	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618561	hsa-miR-643	HITS-CLIP	23824327
MIRT618560	hsa-miR-4312	HITS-CLIP	23824327
MIRT618559	hsa-miR-630	HITS-CLIP	23824327
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT107568	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT533233	hsa-miR-338-5p	PAR-CLIP	21572407
MIRT546056	hsa-miR-4433a-5p	PAR-CLIP	21572407
MIRT107578	hsa-miR-5590-5p	PAR-CLIP	21572407
MIRT107574	hsa-miR-4659a-5p	PAR-CLIP	21572407
MIRT107575	hsa-miR-4659b-5p	PAR-CLIP	21572407
MIRT107580	hsa-miR-4433b-5p	PAR-CLIP	21572407
MIRT107572	hsa-miR-676-3p	PAR-CLIP	21572407
MIRT107576	hsa-miR-4776-3p	PAR-CLIP	21572407
MIRT107573	hsa-miR-4646-3p	PAR-CLIP	21572407
MIRT107571	hsa-miR-2355-3p	PAR-CLIP	21572407
MIRT124632	hsa-miR-376c-3p	PAR-CLIP	22012620
MIRT533234	hsa-miR-32-3p	PAR-CLIP	22012620
MIRT533233	hsa-miR-338-5p	PAR-CLIP	22012620
MIRT533232	hsa-miR-5680	PAR-CLIP	22012620
MIRT533231	hsa-miR-3973	PAR-CLIP	22012620
MIRT107536	hsa-miR-520g-3p	PAR-CLIP	22012620
MIRT107537	hsa-miR-520h	PAR-CLIP	22012620
MIRT533230	hsa-miR-607	PAR-CLIP	22012620
MIRT533229	hsa-miR-1305	PAR-CLIP	22012620
MIRT443136	hsa-miR-548a-5p	PAR-CLIP	22100165
MIRT443135	hsa-miR-548ab	PAR-CLIP	22100165
MIRT443134	hsa-miR-548ad-5p	PAR-CLIP	22100165
MIRT443133	hsa-miR-548ae-5p	PAR-CLIP	22100165
MIRT443132	hsa-miR-548ak	PAR-CLIP	22100165
MIRT443131	hsa-miR-548am-5p	PAR-CLIP	22100165
MIRT443130	hsa-miR-548ap-5p	PAR-CLIP	22100165
MIRT443129	hsa-miR-548aq-5p	PAR-CLIP	22100165
MIRT443128	hsa-miR-548ar-5p	PAR-CLIP	22100165
MIRT443127	hsa-miR-548as-5p	PAR-CLIP	22100165
MIRT443126	hsa-miR-548au-5p	PAR-CLIP	22100165
MIRT443125	hsa-miR-548ay-5p	PAR-CLIP	22100165
MIRT443124	hsa-miR-548b-5p	PAR-CLIP	22100165
MIRT443123	hsa-miR-548bb-5p	PAR-CLIP	22100165
MIRT443122	hsa-miR-548c-5p	PAR-CLIP	22100165
MIRT443121	hsa-miR-548d-5p	PAR-CLIP	22100165
MIRT443120	hsa-miR-548h-5p	PAR-CLIP	22100165
MIRT443119	hsa-miR-548i	PAR-CLIP	22100165
MIRT443118	hsa-miR-548j-5p	PAR-CLIP	22100165
MIRT443117	hsa-miR-548o-5p	PAR-CLIP	22100165
MIRT443116	hsa-miR-548w	PAR-CLIP	22100165
MIRT443115	hsa-miR-548y	PAR-CLIP	22100165
MIRT443114	hsa-miR-559	PAR-CLIP	22100165
MIRT443113	hsa-miR-5197-5p	PAR-CLIP	22100165
MIRT443112	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT443111	hsa-miR-3926	PAR-CLIP	22100165
MIRT443110	hsa-miR-548s	PAR-CLIP	22100165
MIRT755425	hsa-miR-423-3p	Luciferase reporter assay, Western blotting, qRT-PCR	36352275
MIRT1485221	hsa-miR-106a	CLIP-seq
MIRT1485222	hsa-miR-106b	CLIP-seq
MIRT1485223	hsa-miR-1287	CLIP-seq
MIRT1485224	hsa-miR-135a	CLIP-seq
MIRT1485225	hsa-miR-135b	CLIP-seq
MIRT1485226	hsa-miR-17	CLIP-seq
MIRT1485227	hsa-miR-20a	CLIP-seq
MIRT1485228	hsa-miR-20b	CLIP-seq
MIRT1485229	hsa-miR-2117	CLIP-seq
MIRT1485230	hsa-miR-3119	CLIP-seq
MIRT1485231	hsa-miR-3135b	CLIP-seq
MIRT1485232	hsa-miR-3145-3p	CLIP-seq
MIRT1485233	hsa-miR-3153	CLIP-seq
MIRT1485234	hsa-miR-3160-5p	CLIP-seq
MIRT1485235	hsa-miR-3187-3p	CLIP-seq
MIRT1485236	hsa-miR-3192	CLIP-seq
MIRT1485237	hsa-miR-320a	CLIP-seq
MIRT1485238	hsa-miR-320b	CLIP-seq
MIRT1485239	hsa-miR-320c	CLIP-seq
MIRT1485240	hsa-miR-320d	CLIP-seq
MIRT1485241	hsa-miR-326	CLIP-seq
MIRT1485242	hsa-miR-330-5p	CLIP-seq
MIRT1485243	hsa-miR-4257	CLIP-seq
MIRT1485244	hsa-miR-4273	CLIP-seq
MIRT1485245	hsa-miR-4314	CLIP-seq
MIRT1485246	hsa-miR-4420	CLIP-seq
MIRT1485247	hsa-miR-4429	CLIP-seq
MIRT1485248	hsa-miR-4435	CLIP-seq
MIRT1485249	hsa-miR-448	CLIP-seq
MIRT1485250	hsa-miR-4646-5p	CLIP-seq
MIRT1485251	hsa-miR-4677-5p	CLIP-seq
MIRT1485252	hsa-miR-4699-3p	CLIP-seq
MIRT1485253	hsa-miR-4701-5p	CLIP-seq
MIRT1485254	hsa-miR-519a	CLIP-seq
MIRT1485255	hsa-miR-519b-3p	CLIP-seq
MIRT1485256	hsa-miR-519c-3p	CLIP-seq
MIRT1485257	hsa-miR-519d	CLIP-seq
MIRT1485258	hsa-miR-588	CLIP-seq
MIRT1485259	hsa-miR-676	CLIP-seq
MIRT1485260	hsa-miR-802	CLIP-seq
MIRT1485261	hsa-miR-93	CLIP-seq
MIRT1485262	hsa-miR-101	CLIP-seq
MIRT1485221	hsa-miR-106a	CLIP-seq
MIRT1485222	hsa-miR-106b	CLIP-seq
MIRT1485263	hsa-miR-1244	CLIP-seq
MIRT1485264	hsa-miR-1271	CLIP-seq
MIRT1485265	hsa-miR-1284	CLIP-seq
MIRT1485223	hsa-miR-1287	CLIP-seq
MIRT1485224	hsa-miR-135a	CLIP-seq
MIRT1485225	hsa-miR-135b	CLIP-seq
MIRT1485266	hsa-miR-144	CLIP-seq
MIRT1485226	hsa-miR-17	CLIP-seq
MIRT1485267	hsa-miR-182	CLIP-seq
MIRT1485268	hsa-miR-199a-3p	CLIP-seq
MIRT1485269	hsa-miR-199b-3p	CLIP-seq
MIRT1485270	hsa-miR-200b	CLIP-seq
MIRT1485271	hsa-miR-200c	CLIP-seq
MIRT1485227	hsa-miR-20a	CLIP-seq
MIRT1485228	hsa-miR-20b	CLIP-seq
MIRT1485229	hsa-miR-2117	CLIP-seq
MIRT1485272	hsa-miR-297	CLIP-seq
MIRT1485273	hsa-miR-300	CLIP-seq
MIRT1485230	hsa-miR-3119	CLIP-seq
MIRT1485274	hsa-miR-3129-5p	CLIP-seq
MIRT1485231	hsa-miR-3135b	CLIP-seq
MIRT1485232	hsa-miR-3145-3p	CLIP-seq
MIRT1485233	hsa-miR-3153	CLIP-seq
MIRT1485234	hsa-miR-3160-5p	CLIP-seq
MIRT1485235	hsa-miR-3187-3p	CLIP-seq
MIRT1485236	hsa-miR-3192	CLIP-seq
MIRT1485241	hsa-miR-326	CLIP-seq
MIRT1485242	hsa-miR-330-5p	CLIP-seq
MIRT1485275	hsa-miR-3688-5p	CLIP-seq
MIRT1485276	hsa-miR-381	CLIP-seq
MIRT1485243	hsa-miR-4257	CLIP-seq
MIRT1485244	hsa-miR-4273	CLIP-seq
MIRT1485277	hsa-miR-429	CLIP-seq
MIRT1485245	hsa-miR-4314	CLIP-seq
MIRT1485246	hsa-miR-4420	CLIP-seq
MIRT1485248	hsa-miR-4435	CLIP-seq
MIRT1485249	hsa-miR-448	CLIP-seq
MIRT1485250	hsa-miR-4646-5p	CLIP-seq
MIRT1485278	hsa-miR-4666-3p	CLIP-seq
MIRT1485251	hsa-miR-4677-5p	CLIP-seq
MIRT1485252	hsa-miR-4699-3p	CLIP-seq
MIRT1485253	hsa-miR-4701-5p	CLIP-seq
MIRT1485279	hsa-miR-4704-5p	CLIP-seq
MIRT1485280	hsa-miR-4789-5p	CLIP-seq
MIRT1485254	hsa-miR-519a	CLIP-seq
MIRT1485255	hsa-miR-519b-3p	CLIP-seq
MIRT1485256	hsa-miR-519c-3p	CLIP-seq
MIRT1485257	hsa-miR-519d	CLIP-seq
MIRT1485281	hsa-miR-552	CLIP-seq
MIRT1485282	hsa-miR-567	CLIP-seq
MIRT1485258	hsa-miR-588	CLIP-seq
MIRT1485259	hsa-miR-676	CLIP-seq
MIRT1485260	hsa-miR-802	CLIP-seq
MIRT1485261	hsa-miR-93	CLIP-seq
MIRT1485283	hsa-miR-96	CLIP-seq
MIRT2145957	hsa-miR-1245	CLIP-seq
MIRT1485259	hsa-miR-676	CLIP-seq
MIRT1485221	hsa-miR-106a	CLIP-seq
MIRT1485222	hsa-miR-106b	CLIP-seq
MIRT2366362	hsa-miR-1207-3p	CLIP-seq
MIRT2145957	hsa-miR-1245	CLIP-seq
MIRT1485264	hsa-miR-1271	CLIP-seq
MIRT1485265	hsa-miR-1284	CLIP-seq
MIRT2366363	hsa-miR-136	CLIP-seq
MIRT1485226	hsa-miR-17	CLIP-seq
MIRT1485267	hsa-miR-182	CLIP-seq
MIRT1485227	hsa-miR-20a	CLIP-seq
MIRT1485228	hsa-miR-20b	CLIP-seq
MIRT1485229	hsa-miR-2117	CLIP-seq
MIRT2366364	hsa-miR-219-5p	CLIP-seq
MIRT1485272	hsa-miR-297	CLIP-seq
MIRT1485273	hsa-miR-300	CLIP-seq
MIRT2366365	hsa-miR-302a	CLIP-seq
MIRT2366366	hsa-miR-302b	CLIP-seq
MIRT2366367	hsa-miR-302c	CLIP-seq
MIRT2366368	hsa-miR-302d	CLIP-seq
MIRT2366369	hsa-miR-302e	CLIP-seq
MIRT1485232	hsa-miR-3145-3p	CLIP-seq
MIRT1485236	hsa-miR-3192	CLIP-seq
MIRT1485241	hsa-miR-326	CLIP-seq
MIRT1485242	hsa-miR-330-5p	CLIP-seq
MIRT2366370	hsa-miR-3653	CLIP-seq
MIRT2366371	hsa-miR-3658	CLIP-seq
MIRT2366372	hsa-miR-372	CLIP-seq
MIRT2366373	hsa-miR-373	CLIP-seq
MIRT1485276	hsa-miR-381	CLIP-seq
MIRT2366374	hsa-miR-4264	CLIP-seq
MIRT1485244	hsa-miR-4273	CLIP-seq
MIRT2366375	hsa-miR-4311	CLIP-seq
MIRT1485245	hsa-miR-4314	CLIP-seq
MIRT2366376	hsa-miR-4445	CLIP-seq
MIRT2366377	hsa-miR-450b-5p	CLIP-seq
MIRT1485250	hsa-miR-4646-5p	CLIP-seq
MIRT1485278	hsa-miR-4666-3p	CLIP-seq
MIRT1485251	hsa-miR-4677-5p	CLIP-seq
MIRT1485252	hsa-miR-4699-3p	CLIP-seq
MIRT1485279	hsa-miR-4704-5p	CLIP-seq
MIRT2366378	hsa-miR-4720-3p	CLIP-seq
MIRT2366379	hsa-miR-4782-3p	CLIP-seq
MIRT1485280	hsa-miR-4789-5p	CLIP-seq
MIRT2366380	hsa-miR-4804-3p	CLIP-seq
MIRT2366381	hsa-miR-508-3p	CLIP-seq
MIRT2366382	hsa-miR-513a-3p	CLIP-seq
MIRT2366383	hsa-miR-518a-5p	CLIP-seq
MIRT1485257	hsa-miR-519d	CLIP-seq
MIRT2366384	hsa-miR-520a-3p	CLIP-seq
MIRT2366385	hsa-miR-520b	CLIP-seq
MIRT2366386	hsa-miR-520c-3p	CLIP-seq
MIRT2366387	hsa-miR-520d-3p	CLIP-seq
MIRT2366388	hsa-miR-520e	CLIP-seq
MIRT2366389	hsa-miR-520f	CLIP-seq
MIRT2366390	hsa-miR-520g	CLIP-seq
MIRT2366391	hsa-miR-527	CLIP-seq
MIRT1485281	hsa-miR-552	CLIP-seq
MIRT1485282	hsa-miR-567	CLIP-seq
MIRT2366392	hsa-miR-622	CLIP-seq
MIRT2366393	hsa-miR-640	CLIP-seq
MIRT1485261	hsa-miR-93	CLIP-seq
MIRT1485283	hsa-miR-96	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPA	Unknown	10064725
HIC1	Repression	24076391
PPARG	Activation	19861583

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005041	Function	Low-density lipoprotein particle receptor activity	TAS	10380922
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	8083232, 10571240, 10571241, 17330141, 17548821, 20223215
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IDA	10571240
GO:0007165	Process	Signal transduction	TAS	10380922
GO:0007399	Process	Nervous system development	TAS	10380922
GO:0007411	Process	Axon guidance	TAS
GO:0007613	Process	Memory	TAS	7550352
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0016020	Component	Membrane	IDA	15082773
GO:0016021	Component	Integral component of membrane	IEA
GO:0021517	Process	Ventral spinal cord development	IEA
GO:0030229	Function	Very-low-density lipoprotein particle receptor activity	IDA	8083232
GO:0030229	Function	Very-low-density lipoprotein particle receptor activity	TAS	20005821
GO:0032802	Process	Low-density lipoprotein particle receptor catabolic process	TAS
GO:0034185	Function	Apolipoprotein binding	IDA	10571240
GO:0034185	Function	Apolipoprotein binding	ISS
GO:0034189	Function	Very-low-density lipoprotein particle binding	IDA	10571240
GO:0034361	Component	Very-low-density lipoprotein particle	IEA
GO:0034436	Process	Glycoprotein transport	IDA	10571240
GO:0034447	Process	Very-low-density lipoprotein particle clearance	IDA	8083232
GO:0034447	Process	Very-low-density lipoprotein particle clearance	TAS
GO:0038024	Function	Cargo receptor activity	IDA	10571240
GO:0038025	Function	Reelin receptor activity	ISS
GO:0038026	Process	Reelin-mediated signaling pathway	ISS
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0045860	Process	Positive regulation of protein kinase activity	IEA
GO:0048306	Function	Calcium-dependent protein binding	IPI	10571240
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:1900006	Process	Positive regulation of dendrite development	ISS

Other IDs

• MIM: 192977
• HGNC: 12698
• e!Ensembl: ENSG00000147852

Protein

• UniProt ID: P98155
• Protein name: Very low-density lipoprotein receptor (VLDL receptor) (VLDL-R)
• Protein function: Multifunctional cell surface receptor that binds VLDL and transports it into cells by endocytosis and therefore plays an important role in energy metabolism. Also binds to a wide range of other molecules including Reelin/RELN or apolipoprotein E
• PDB: 1V9U, 3DPR, 6BYV, 8IHP, 8UA4, 8UA8, 8UFB, 8UFC, 8X0K, 8X0L, 8X0M, 8XI4, 8XI5, 8YS2, 8YS4, 8YVZ, 8YW0, 8YW1, 8YW2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00057	Ldl_recept_a	31 → 67	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	70 → 108	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	111 → 149	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	152 → 188	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	191 → 229	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	237 → 273	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	276 → 312	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	316 → 355	Low-density lipoprotein receptor domain class A	Repeat
  PF14670	FXa_inhibition	360 → 394		Domain
  PF07645	EGF_CA	396 → 434	Calcium-binding EGF domain	Domain
  PF00058	Ldl_recept_b	481 → 522	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	525 → 565	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	568 → 609	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	612 → 654	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	655 → 695	Low-density lipoprotein receptor repeat class B	Repeat
  PF14670	FXa_inhibition	706 → 749		Domain

• Sequence:

  MGTSALWALWLLLALCWAPRESGATGTGRKAKCEPSQFQCTNGRCITLLWKCDGDEDCVD
  GSDEKNCVKKTCAESDFVCNNGQCVPSRWKCDGDPDCEDGSDESPEQCHMRTCRIHEISC
  GAHSTQCIPVSWRCDGENDCDSGEDEENCGNITCSPDEFTCSSGRCISRNFVCNGQDDCS
  DGSDELDCAPPTCGAHEFQCSTSSCIPISWVCDDDADCSDQSDESLEQCGRQPVIHTKCP
  ASEIQCGSGECIHKKWRCDGDPDCKDGSDEVNCPSRTCRPDQFECEDGSCIHGSRQCNGI
  RDCVDGSDEVNCKNVNQCLGPGKFKCRSGECIDISKVCNQEQDCRDWSDEPLKECHINEC
  LVNNGGCSHICKDLVIGYECDCAAGFELIDRKTCGDIDECQNPGICSQICINLKGGYKCE
  CSRGYQMDLATGVCKAVGKEPSLIFTNRRDIRKIGLERKEYIQLVEQLRNTVALDADIAA
  QKLFWADLSQKAIFSASIDDKVGRHVKMIDNVYNPAAIAVDWVYKTIYWTDAASKTISVA
  TLDGTKRKFLFNSDLREPASIAVDPLSGFVYWSDWGEPAKIEKAGMNGFDRRPLVTADIQ
  WPNGITLDLIKSRLYWLDSKLHMLSSVDLNGQDRRIVLKSLEFLAHPLALTIFEDRVYWI
  DGENEAVYGANKFTGSELATLVNNLNDAQDIIVYHELVQPSGKNWCEEDMENGGCEYLCL
  PAPQINDHSPKYTCSCPSGYNVEENGRDCQSTATTVTYSETKDTNTTEISATSGLVPGGI
  NVTTAVSEVSVPPKGTSAAWAILPLLLLVMAAVGGYLMWRNWQHKNMKSMNFDNPVYLKT
  TEEDLSIDIGRHSASVGHTYPAISVVSTDDDLA

• Sequence length: 873

Pathways

KEGG:

Spinocerebellar ataxia
Lipid and atherosclerosis

Reactome:

Reelin signalling pathway
VLDLR internalisation and degradation
VLDL clearance

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	15820235
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	rs80338907, rs80338906, rs267606695, rs80338905, rs387906598, rs587776906, rs546968533, rs398122380, rs397514750, rs267603791, rs730882206, rs770279237, rs797046092, rs770269674, rs138358708, rs1064793377, rs755133567, rs1156904586, rs79267946, rs1563390893, rs1563764078, rs1304109530, rs1593410369, rs1593576872, rs1593326999, rs2039720333	18326629, 18364738, 16080122
Cerebral palsy	Cerebral Palsy	rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Dysequilibrium syndrome	Dysequilibrium syndrome	rs1952385477	21885617
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Nystagmus	Nystagmus, End-Position	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	20975297
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	17936586, 17261317, 12363388

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar atrophy	Cerebellar atrophy
Cerebellar hypoplasia	Cerebellar Hypoplasia		16080122, 18364738
Dwarfism	Dwarfism
Dysarthria	Dysarthria
Non-alcoholic fatty liver disease	Non-alcoholic Fatty Liver Disease, Nonalcoholic Steatohepatitis		29289645
Pachygyria	Pachygyria
Strabismus	Strabismus