DSP (desmoplakin)

Gene

• Entrez ID: 1832
• Gene name: Desmoplakin
• Gene symbol: DSP
• Synonyms (NCBI Gene): DCWHKTA, DP
• Chromosome: 6
• Chromosome location: 6p24.3
• Summary: This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28763965	C>A,G,T	Uncertain-significance, likely-pathogenic, likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant, stop gained, coding sequence variant, missense variant, synonymous variant
rs28931610	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs34239595	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs41302885	G>A,C,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs113726158	A>G,T	Likely-pathogenic	Splice acceptor variant
rs113967308	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121912991	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs121912992	C>G,T	Benign, pathogenic	Missense variant, coding sequence variant, synonymous variant
rs121912993	T>G	Pathogenic	Missense variant, coding sequence variant
rs121912994	T>A	Pathogenic	Stop gained, coding sequence variant
rs121912995	C>T	Pathogenic	Stop gained, coding sequence variant
rs121912996	C>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs121912997	C>G,T	Likely-pathogenic, pathogenic	Missense variant, intron variant, coding sequence variant, stop gained
rs121912999	G>A	Pathogenic	Missense variant, coding sequence variant
rs138329459	A>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs138599871	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs139509870	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs139969658	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs140474226	C>T	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, stop gained
rs141026028	C>A,T	Likely-pathogenic, pathogenic, likely-benign	Stop gained, coding sequence variant, synonymous variant
rs142429411	C>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Missense variant, coding sequence variant
rs142494121	G>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign	Missense variant, coding sequence variant
rs142717240	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs142885240	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs145933612	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs146617683	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147000526	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147315869	G>A	Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147415451	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, missense variant
rs147484870	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs148041814	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Intron variant, coding sequence variant, missense variant
rs148894066	C>A,T	Likely-pathogenic, likely-benign, benign	Coding sequence variant, stop gained, synonymous variant
rs149701627	C>G,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs150339369	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs185367490	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, missense variant
rs188516326	A>G	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs193922668	ATT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs193922669	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs193922671	C>G	Likely-pathogenic, likely-benign	Coding sequence variant, missense variant
rs199795359	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs200243976	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, intron variant, missense variant
rs201397978	T>C	Benign, benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201826850	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained, missense variant
rs202232360	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs370550974	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs372014020	G>A,C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs375327581	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs375891215	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs387906618	G>A	Pathogenic	Missense variant, coding sequence variant
rs397514039	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs397514040	TT>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant
rs397514045	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs397516913	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs397516915	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs397516919	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397516923	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs397516924	->A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs397516927	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397516929	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs397516932	AAGAACAAAT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs397516933	C>T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs397516940	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs397516943	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs397516945	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397516946	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs397516955	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs397516956	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397516971	ATCTCGCTCCGG>-,ATCTCGCTCCGGATCTCGCTCCGG	Likely-benign, conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant, inframe insertion
rs397516973	C>A,T	Likely-benign, likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs557263443	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs562015789	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs587782927	AG>-	Likely-pathogenic, pathogenic	Splice acceptor variant, coding sequence variant
rs606231293	->GGAAAATACAGTCTCAGTTCACCGATGCCC	Pathogenic	Inframe insertion, coding sequence variant
rs606231294	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs606231295	C>T	Pathogenic	Missense variant, coding sequence variant
rs727502993	->AC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs727502994	->AG	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs727503000	->A	Pathogenic	Frameshift variant, coding sequence variant
rs727503001	T>A	Likely-pathogenic, pathogenic	Intron variant, stop gained, coding sequence variant
rs727503003	->A	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs727504443	G>A	Likely-pathogenic, pathogenic	Splice donor variant
rs727504498	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs727504738	CC>AGCTCGAGTCCCTCG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs727505077	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs727505115	G>A,C	Likely-pathogenic	Splice donor variant
rs727505260	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs727505271	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs730880023	AGGTA>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs730880024	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs730880081	G>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs730880082	C>G,T	Likely-pathogenic, pathogenic	Missense variant, stop gained, coding sequence variant
rs730880092	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs730880093	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs746877365	C>G,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs749730642	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs750289780	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs754354190	TG>-	Likely-pathogenic	Stop gained, coding sequence variant, inframe indel
rs767643821	C>A,G,T	Pathogenic, likely-benign, likely-pathogenic	Intron variant, coding sequence variant, stop gained, synonymous variant, missense variant
rs768521444	C>T	Pathogenic	Coding sequence variant, stop gained
rs768858918	G>A	Likely-pathogenic, uncertain-significance	Synonymous variant, coding sequence variant
rs770873593	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs772646601	T>A,C	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs774514264	T>C	Likely-pathogenic	Splice donor variant
rs774763657	AGTC>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs778178956	C>T	Pathogenic, likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs778856526	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs794727381	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs794728106	G>A	Pathogenic	Splice donor variant
rs794728111	A>G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs794728113	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728119	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs794728121	A>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs794728124	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs794728130	C>T	Pathogenic	Stop gained, coding sequence variant
rs794728131	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794728135	CTTGATGCG>-	Pathogenic	Stop gained, inframe indel, coding sequence variant
rs794728136	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728137	->G	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728139	CAATT>-	Pathogenic	Stop gained, coding sequence variant
rs794728140	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728141	->G	Pathogenic	Frameshift variant, coding sequence variant
rs794728142	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs794728143	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs794728146	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs794728147	->G	Pathogenic	Frameshift variant, coding sequence variant
rs794728148	->CT	Pathogenic	Frameshift variant, coding sequence variant
rs794728149	->A	Pathogenic	Frameshift variant, coding sequence variant
rs794728157	->TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs869025392	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs869025395	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs869025398	T>G	Likely-pathogenic	Splice donor variant
rs869025399	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs876657638	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs879255521	C>T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs886038929	C>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant
rs886039009	GAGAC>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886039178	C>G	Pathogenic	Stop gained, coding sequence variant
rs886039343	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057517903	G>C	Likely-pathogenic	Splice acceptor variant
rs1057518101	G>T	Pathogenic	Stop gained, coding sequence variant
rs1057518920	C>A	Pathogenic	Stop gained, coding sequence variant
rs1057523629	G>A	Likely-pathogenic	Splice donor variant
rs1060500607	->T	Pathogenic	Stop gained, coding sequence variant
rs1060500609	G>T	Likely-pathogenic	Splice acceptor variant
rs1060500610	C>A,T	Likely-pathogenic, pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs1060500613	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060500618	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064793435	GACACT>CA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064793890	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1064794616	TAT>G	Pathogenic	Coding sequence variant, frameshift variant
rs1131691561	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1131691673	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1135401735	A>G	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1184921987	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs1194358112	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1227662860	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1231490307	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1236464864	T>C,G	Likely-pathogenic, pathogenic	Intron variant, stop gained, synonymous variant, coding sequence variant
rs1238227166	C>G,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1249913357	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1267435790	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1304410089	G>A,T	Pathogenic	Splice acceptor variant
rs1394836623	AGAG>-,AG	Likely-pathogenic, pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1464253797	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1487814687	GAGA>-,GA	Pathogenic	Coding sequence variant, frameshift variant
rs1554105614	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1554105911	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554106742	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554106743	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554106756	T>C	Likely-pathogenic	Splice donor variant
rs1554106830	A>G	Likely-pathogenic	Splice acceptor variant
rs1554107096	A>C	Pathogenic	Missense variant, coding sequence variant
rs1554107097	C>A	Pathogenic	Stop gained, coding sequence variant
rs1554107098	T>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1554107107	G>C	Likely-pathogenic	Splice donor variant
rs1554107624	T>A	Pathogenic	Stop gained, coding sequence variant
rs1554107651	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1554107741	G>T	Likely-pathogenic	Splice donor variant
rs1554107839	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554107916	->GGTT	Pathogenic	Coding sequence variant, frameshift variant
rs1554108012	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1554108050	G>T	Pathogenic	Stop gained, coding sequence variant
rs1554108152	->AAATCGA	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1554108170	->CC	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1554108172	G>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1554108280	TGA>G	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1554108283	C>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1554108287	CACTG>-	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1554108410	AGGAG>TTCT	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1554108431	C>T	Likely-pathogenic, pathogenic	Intron variant, stop gained, coding sequence variant
rs1554108477	C>T	Likely-pathogenic, pathogenic	Intron variant, stop gained, coding sequence variant
rs1554108609	->A	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1554108610	AGTCCTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554108621	ACAGCGCC>GTG	Pathogenic	Coding sequence variant, frameshift variant
rs1554108854	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554108859	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554108929	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554109181	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554109247	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561680649	GT>AA	Pathogenic	Coding sequence variant, stop gained
rs1561686893	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1561687796	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1561690319	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1561693779	C>T	Pathogenic	Coding sequence variant, stop gained
rs1561694696	C>T	Pathogenic	Coding sequence variant, stop gained
rs1561696970	AC>T	Pathogenic	Coding sequence variant, frameshift variant
rs1561697181	->TA	Pathogenic	Coding sequence variant, stop gained
rs1561698345	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1561698362	ATGAA>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1561698714	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1561698750	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1561701401	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561701721	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561702549	G>CT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561702640	TCAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561702771	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561703331	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1561703363	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561703922	ACAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561704475	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581792793	TTTTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581792832	->AT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581794029	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1581799453	C>T	Pathogenic	Stop gained, coding sequence variant
rs1581799477	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581800307	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581802715	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1581805658	C>T	Pathogenic	Stop gained, coding sequence variant
rs1581805788	C>T	Pathogenic	Stop gained, coding sequence variant
rs1581809567	C>T	Pathogenic	Stop gained, coding sequence variant
rs1581813420	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581813564	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581815603	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581815654	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1581816089	C>T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs1581816570	->GGTC	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1581817513	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1581818649	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1581819043	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1581823904	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581823931	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581824066	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581825892	->T	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001637	hsa-let-7b-5p	pSILAC	18668040
MIRT021319	hsa-miR-9-5p	Microarray	17612493
MIRT025251	hsa-miR-34a-5p	Proteomics	21566225
MIRT031374	hsa-miR-16-5p	Proteomics	18668040
MIRT001637	hsa-let-7b-5p	Proteomics;Other	18668040
MIRT001637	hsa-let-7b-5p	CLASH	23622248
MIRT001637	hsa-let-7b-5p	CLASH	23622248
MIRT051650	hsa-let-7e-5p	CLASH	23622248
MIRT045149	hsa-miR-186-5p	CLASH	23622248
MIRT440774	hsa-miR-544a	HITS-CLIP	24374217
MIRT440774	hsa-miR-544a	HITS-CLIP	24374217
MIRT946215	hsa-miR-1245	CLIP-seq
MIRT946216	hsa-miR-1253	CLIP-seq
MIRT946217	hsa-miR-1275	CLIP-seq
MIRT946218	hsa-miR-1290	CLIP-seq
MIRT946219	hsa-miR-186	CLIP-seq
MIRT946220	hsa-miR-2115	CLIP-seq
MIRT946221	hsa-miR-217	CLIP-seq
MIRT946222	hsa-miR-2276	CLIP-seq
MIRT946223	hsa-miR-3074-3p	CLIP-seq
MIRT946224	hsa-miR-3133	CLIP-seq
MIRT946225	hsa-miR-340	CLIP-seq
MIRT946226	hsa-miR-34c-3p	CLIP-seq
MIRT946227	hsa-miR-3607-3p	CLIP-seq
MIRT946228	hsa-miR-3613-3p	CLIP-seq
MIRT946229	hsa-miR-3686	CLIP-seq
MIRT946230	hsa-miR-3688-3p	CLIP-seq
MIRT946231	hsa-miR-374c	CLIP-seq
MIRT946232	hsa-miR-3940-5p	CLIP-seq
MIRT946233	hsa-miR-4276	CLIP-seq
MIRT946234	hsa-miR-4418	CLIP-seq
MIRT946235	hsa-miR-4428	CLIP-seq
MIRT946236	hsa-miR-4507	CLIP-seq
MIRT946237	hsa-miR-4509	CLIP-seq
MIRT946238	hsa-miR-4639-3p	CLIP-seq
MIRT946239	hsa-miR-4652-3p	CLIP-seq
MIRT946240	hsa-miR-4665-5p	CLIP-seq
MIRT946241	hsa-miR-4698	CLIP-seq
MIRT946242	hsa-miR-4714-5p	CLIP-seq
MIRT946243	hsa-miR-4738-3p	CLIP-seq
MIRT946244	hsa-miR-4742-3p	CLIP-seq
MIRT946245	hsa-miR-4760-5p	CLIP-seq
MIRT946246	hsa-miR-4766-5p	CLIP-seq
MIRT946247	hsa-miR-4775	CLIP-seq
MIRT946248	hsa-miR-509-3-5p	CLIP-seq
MIRT946249	hsa-miR-509-5p	CLIP-seq
MIRT946250	hsa-miR-515-5p	CLIP-seq
MIRT946251	hsa-miR-548a-3p	CLIP-seq
MIRT946252	hsa-miR-548c-3p	CLIP-seq
MIRT946253	hsa-miR-548e	CLIP-seq
MIRT946254	hsa-miR-548f	CLIP-seq
MIRT946255	hsa-miR-548g	CLIP-seq
MIRT946256	hsa-miR-590-3p	CLIP-seq
MIRT946257	hsa-miR-640	CLIP-seq
MIRT946258	hsa-miR-655	CLIP-seq
MIRT946259	hsa-miR-676	CLIP-seq
MIRT946260	hsa-miR-27a	CLIP-seq
MIRT946261	hsa-miR-27b	CLIP-seq
MIRT946262	hsa-miR-3146	CLIP-seq
MIRT946263	hsa-miR-3684	CLIP-seq
MIRT946231	hsa-miR-374c	CLIP-seq
MIRT946264	hsa-miR-412	CLIP-seq
MIRT946265	hsa-miR-4659a-3p	CLIP-seq
MIRT946266	hsa-miR-4659b-3p	CLIP-seq
MIRT946267	hsa-miR-4678	CLIP-seq
MIRT946268	hsa-miR-513a-5p	CLIP-seq
MIRT946252	hsa-miR-548c-3p	CLIP-seq
MIRT946258	hsa-miR-655	CLIP-seq
MIRT946215	hsa-miR-1245	CLIP-seq
MIRT946216	hsa-miR-1253	CLIP-seq
MIRT946217	hsa-miR-1275	CLIP-seq
MIRT946218	hsa-miR-1290	CLIP-seq
MIRT1980161	hsa-miR-138	CLIP-seq
MIRT1980162	hsa-miR-150	CLIP-seq
MIRT946221	hsa-miR-217	CLIP-seq
MIRT946222	hsa-miR-2276	CLIP-seq
MIRT1980163	hsa-miR-2681	CLIP-seq
MIRT946223	hsa-miR-3074-3p	CLIP-seq
MIRT1980164	hsa-miR-3192	CLIP-seq
MIRT946226	hsa-miR-34c-3p	CLIP-seq
MIRT946227	hsa-miR-3607-3p	CLIP-seq
MIRT946228	hsa-miR-3613-3p	CLIP-seq
MIRT1980165	hsa-miR-3646	CLIP-seq
MIRT946229	hsa-miR-3686	CLIP-seq
MIRT946230	hsa-miR-3688-3p	CLIP-seq
MIRT1980166	hsa-miR-3689a-3p	CLIP-seq
MIRT1980167	hsa-miR-3689c	CLIP-seq
MIRT946231	hsa-miR-374c	CLIP-seq
MIRT1980168	hsa-miR-3907	CLIP-seq
MIRT946232	hsa-miR-3940-5p	CLIP-seq
MIRT1980169	hsa-miR-425	CLIP-seq
MIRT946233	hsa-miR-4276	CLIP-seq
MIRT1980170	hsa-miR-4279	CLIP-seq
MIRT946234	hsa-miR-4418	CLIP-seq
MIRT946235	hsa-miR-4428	CLIP-seq
MIRT1980171	hsa-miR-4492	CLIP-seq
MIRT1980172	hsa-miR-4498	CLIP-seq
MIRT946236	hsa-miR-4507	CLIP-seq
MIRT946237	hsa-miR-4509	CLIP-seq
MIRT1980173	hsa-miR-4517	CLIP-seq
MIRT946238	hsa-miR-4639-3p	CLIP-seq
MIRT946239	hsa-miR-4652-3p	CLIP-seq
MIRT946240	hsa-miR-4665-5p	CLIP-seq
MIRT946241	hsa-miR-4698	CLIP-seq
MIRT1980174	hsa-miR-4705	CLIP-seq
MIRT1980175	hsa-miR-4728-5p	CLIP-seq
MIRT1980176	hsa-miR-4731-5p	CLIP-seq
MIRT1980177	hsa-miR-4760-3p	CLIP-seq
MIRT946245	hsa-miR-4760-5p	CLIP-seq
MIRT1980178	hsa-miR-4761-5p	CLIP-seq
MIRT1980179	hsa-miR-4773	CLIP-seq
MIRT946247	hsa-miR-4775	CLIP-seq
MIRT946248	hsa-miR-509-3-5p	CLIP-seq
MIRT946249	hsa-miR-509-5p	CLIP-seq
MIRT946252	hsa-miR-548c-3p	CLIP-seq
MIRT1980180	hsa-miR-548p	CLIP-seq
MIRT1980181	hsa-miR-548q	CLIP-seq
MIRT946256	hsa-miR-590-3p	CLIP-seq
MIRT946257	hsa-miR-640	CLIP-seq
MIRT946258	hsa-miR-655	CLIP-seq
MIRT946259	hsa-miR-676	CLIP-seq
MIRT1980182	hsa-miR-762	CLIP-seq
MIRT946221	hsa-miR-217	CLIP-seq
MIRT2215309	hsa-miR-324-5p	CLIP-seq
MIRT2215310	hsa-miR-3691-3p	CLIP-seq
MIRT946247	hsa-miR-4775	CLIP-seq
MIRT2215311	hsa-miR-521	CLIP-seq
MIRT1980180	hsa-miR-548p	CLIP-seq
MIRT946256	hsa-miR-590-3p	CLIP-seq
MIRT946217	hsa-miR-1275	CLIP-seq
MIRT946232	hsa-miR-3940-5p	CLIP-seq
MIRT946235	hsa-miR-4428	CLIP-seq
MIRT946236	hsa-miR-4507	CLIP-seq
MIRT946237	hsa-miR-4509	CLIP-seq
MIRT946240	hsa-miR-4665-5p	CLIP-seq
MIRT946241	hsa-miR-4698	CLIP-seq
MIRT946243	hsa-miR-4738-3p	CLIP-seq
MIRT946235	hsa-miR-4428	CLIP-seq
MIRT946237	hsa-miR-4509	CLIP-seq
MIRT946241	hsa-miR-4698	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IDA
GO:0001533	Component	Cornified envelope	TAS
GO:0002934	Process	Desmosome organization	IEA
GO:0002934	Process	Desmosome organization	ISS	16917092
GO:0003223	Process	Ventricular compact myocardium morphogenesis	IEA
GO:0003223	Process	Ventricular compact myocardium morphogenesis	ISS	16917092
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005080	Function	Protein kinase C binding	IPI	18474624
GO:0005198	Function	Structural molecule activity	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	9887343
GO:0005515	Function	Protein binding	IPI	10852826, 11790773, 12482924, 16917092, 19136012, 21062920, 23444369, 25225338, 25852190, 32707033
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	ISS	16917092
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11790773, 16917092
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	ISS
GO:0005916	Component	Fascia adherens	IEA
GO:0008544	Process	Epidermis development	TAS	9887343
GO:0014704	Component	Intercalated disc	IBA
GO:0014704	Component	Intercalated disc	IDA	22781308, 22889254, 23381804
GO:0014704	Component	Intercalated disc	IEA
GO:0014704	Component	Intercalated disc	ISS
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0018149	Process	Peptide cross-linking	IDA
GO:0030057	Component	Desmosome	IDA	18343367, 20859650
GO:0030057	Component	Desmosome	IEA
GO:0030057	Component	Desmosome	ISS
GO:0030216	Process	Keratinocyte differentiation	IDA
GO:0034332	Process	Adherens junction organization	IEA
GO:0042060	Process	Wound healing	IBA
GO:0043588	Process	Skin development	IBA
GO:0043588	Process	Skin development	IEA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IBA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEA
GO:0045109	Process	Intermediate filament organization	IEA
GO:0045109	Process	Intermediate filament organization	ISS	16917092
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337
GO:0070161	Component	Anchoring junction	IEA
GO:0086073	Process	Bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	12373648
GO:0086083	Function	Cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC	12373648
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	12373648
GO:0090136	Process	Epithelial cell-cell adhesion	IMP	27892606
GO:0097110	Function	Scaffold protein binding	IPI	10852826
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	12373648
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:0150105	Process	Protein localization to cell-cell junction	IEA
GO:0150105	Process	Protein localization to cell-cell junction	ISS	16917092

Other IDs

• MIM: 125647
• HGNC: 3052
• e!Ensembl: ENSG00000096696

Protein

• UniProt ID: P15924
• Protein name: Desmoplakin (DP) (250/210 kDa paraneoplastic pemphigus antigen)
• Protein function: Major high molecular weight protein of desmosomes. Regulates profibrotic gene expression in cardiomyocytes via activation of the MAPK14/p38 MAPK signaling cascade and increase in TGFB1 protein abundance (By similarity). {ECO:0000250|UniProtKB:F1
• PDB: 1LM5, 1LM7, 3R6N, 5DZZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17902	SH3_10	447 → 513	SH3 domain	Domain
  PF18373	Spectrin_like	548 → 625	Spectrin like domain	Domain
  PF00681	Plectin	2047 → 2086	Plectin repeat	Repeat
  PF00681	Plectin	2123 → 2163	Plectin repeat	Repeat
  PF00681	Plectin	2252 → 2292	Plectin repeat	Repeat
  PF00681	Plectin	2290 → 2330	Plectin repeat	Repeat
  PF00681	Plectin	2366 → 2406	Plectin repeat	Repeat
  PF00681	Plectin	2467 → 2497	Plectin repeat	Repeat
  PF00681	Plectin	2649 → 2689	Plectin repeat	Repeat
  PF00681	Plectin	2725 → 2765	Plectin repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in oral mucosa (at protein level) (PubMed:30479852). Expressed in arrector pili muscle (at protein level) (PubMed:29034528). Expressed in the heart in the heart (at protein level) (PubMed:18662195). {ECO:0000269|PubMed:186621
• Sequence:

  MSCNGGSHPRINTLGRMIRAESGPDLRYEVTSGGGGTSRMYYSRRGVITDQNSDGYCQTG
  TMSRHQNQNTIQELLQNCSDCLMRAELIVQPELKYGDGIQLTRSRELDECFAQANDQMEI
  LDSLIREMRQMGQPCDAYQKRLLQLQEQMRALYKAISVPRVRRASSKGGGGYTCQSGSGW
  DEFTKHVTSECLGWMRQQRAEMDMVAWGVDLASVEQHINSHRGIHNSIGDYRWQLDKIKA
  DLREKSAIYQLEEEYENLLKASFERMDHLRQLQNIIQATSREIMWINDCEEEELLYDWSD
  KNTNIAQKQEAFSIRMSQLEVKEKELNKLKQESDQLVLNQHPASDKIEAYMDTLQTQWSW
  ILQITKCIDVHLKENAAYFQFFEEAQSTEAYLKGLQDSIRKKYPCDKNMPLQHLLEQIKE
  LEKEREKILEYKRQVQNLVNKSKKIVQLKPRNPDYRSNKPIILRALCDYKQDQKIVHKGD
  ECILKDNNERSKWYVTGPGGVDMLVPSVGLIIPPPNPLAVDLSCKIEQYYEAILALWNQL
  YINMKSLVSWHYCMIDIEKIRAMTIAKLKTMRQEDYMKTIADLELHYQEFIRNSQGSEMF
  GDDDKRKIQSQFTDAQKHYQTLVIQLPGYPQHQTVTTTEITHHGTCQDVNHNKVIETNRE
  NDKQETWMLMELQKIRRQIEHCEGRMTLKNLPLADQGSSHHITVKINELKSVQNDSQAIA
  EVLNQLKDMLANFRGSEKYCYLQNEVFGLFQKLENINGVTDGYLNSLCTVRALLQAILQT
  EDMLKVYEARLTEEETVCLDLDKVEAYRCGLKKIKNDLNLKKSLLATMKTELQKAQQIHS
  QTSQQYPLYDLDLGKFGEKVTQLTDRWQRIDKQIDFRLWDLEKQIKQLRNYRDNYQAFCK
  WLYDAKRRQDSLESMKFGDSNTVMRFLNEQKNLHSEISGKRDKSEEVQKIAELCANSIKD
  YELQLASYTSGLETLLNIPIKRTMIQSPSGVILQEAADVHARYIELLTRSGDYYRFLSEM
  LKSLEDLKLKNTKIEVLEEELRLARDANSENCNKNKFLDQNLQKYQAECSQFKAKLASLE
  ELKRQAELDGKSAKQNLDKCYGQIKELNEKITRLTYEIEDEKRRRKSVEDRFDQQKNDYD
  QLQKARQCEKENLGWQKLESEKAIKEKEYEIERLRVLLQEEGTRKREYENELAKVRNHYN
  EEMSNLRNKYETEINITKTTIKEISMQKEDDSKNLRNQLDRLSRENRDLKDEIVRLNDSI
  LQATEQRRRAEENALQQKACGSEIMQKKQHLEIELKQVMQQRSEDNARHKQSLEEAAKTI
  QDKNKEIERLKAEFQEEAKRRWEYENELSKVRNNYDEEIISLKNQFETEINITKTTIHQL
  TMQKEEDTSGYRAQIDNLTRENRSLSEEIKRLKNTLTQTTENLRRVEEDIQQQKATGSEV
  SQRKQQLEVELRQVTQMRTEESVRYKQSLDDAAKTIQDKNKEIERLKQLIDKETNDRKCL
  EDENARLQRVQYDLQKANSSATETINKLKVQEQELTRLRIDYERVSQERTVKDQDITRFQ
  NSLKELQLQKQKVEEELNRLKRTASEDSCKRKKLEEELEGMRRSLKEQAIKITNLTQQLE
  QASIVKKRSEDDLRQQRDVLDGHLREKQRTQEELRRLSSEVEALRRQLLQEQESVKQAHL
  RNEHFQKAIEDKSRSLNESKIEIERLQSLTENLTKEHLMLEEELRNLRLEYDDLRRGRSE
  ADSDKNATILELRSQLQISNNRTLELQGLINDLQRERENLRQEIEKFQKQALEASNRIQE
  SKNQCTQVVQERESLLVKIKVLEQDKARLQRLEDELNRAKSTLEAETRVKQRLECEKQQI
  QNDLNQWKTQYSRKEEAIRKIESEREKSEREKNSLRSEIERLQAEIKRIEERCRRKLEDS
  TRETQSQLETERSRYQREIDKLRQRPYGSHRETQTECEWTVDTSKLVFDGLRKKVTAMQL
  YECQLIDKTTLDKLLKGKKSVEEVASEIQPFLRGAGSIAGASASPKEKYSLVEAKRKKLI
  SPESTVMLLEAQAATGGIIDPHRNEKLTVDSAIARDLIDFDDRQQIYAAEKAITGFDDPF
  SGKTVSVSEAIKKNLIDRETGMRLLEAQIASGGVVDPVNSVFLPKDVALARGLIDRDLYR
  SLNDPRDSQKNFVDPVTKKKVSYVQLKERCRIEPHTGLLLLSVQKRSMSFQGIRQPVTVT
  ELVDSGILRPSTVNELESGQISYDEVGERIKDFLQGSSCIAGIYNETTKQKLGIYEAMKI
  GLVRPGTALELLEAQAATGFIVDPVSNLRLPVEEAYKRGLVGIEFKEKLLSAERAVTGYN
  DPETGNIISLFQAMNKELIEKGHGIRLLEAQIATGGIIDPKESHRLPVDIAYKRGYFNEE
  LSEILSDPSDDTKGFFDPNTEENLTYLQLKERCIKDEETGLCLLPLKEKKKQVQTSQKNT
  LRKRRVVIVDPETNKEMSVQEAYKKGLIDYETFKELCEQECEWEEITITGSDGSTRVVLV
  DRKTGSQYDIQDAIDKGLVDRKFFDQYRSGSLSLTQFADMISLKNGVGTSSSMGSGVSDD
  VFSSSRHESVSKISTISSVRNLTIRSSSFSDTLEESSPIAAIFDTENLEKISITEGIERG
  IVDSITGQRLLEAQACTGGIIHPTTGQKLSLQDAVSQGVIDQDMATRLKPAQKAFIGFEG
  VKGKKKMSAAEAVKEKWLPYEAGQRFLEFQYLTGGLVDPEVHGRISTEEAIRKGFIDGRA
  AQRLQDTSSYAKILTCPKTKLKISYKDAINRSMVEDITGLRLLEAASVSSKGLPSPYNMS
  SAPGSRSGSRSGSRSGSRSGSRSGSRRGSFDATGNSSYSYSYSFSSSSIGH

• Sequence length: 2871

Pathways

KEGG:

Cytoskeleton in muscle cells
Arrhythmogenic right ventricular cardiomyopathy

Reactome:

Apoptotic cleavage of cell adhesion proteins
Neutrophil degranulation
Keratinization
Formation of the cornified envelope

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Aortic dilatation	Pathogenic	rs1057518920	RCV000415085
Arrhythmogenic cardiomyopathy	Likely pathogenic; Pathogenic	rs869025395, rs1285329067, rs1581777867, rs1561693779, rs1581819043, rs397516927	RCV002515542 RCV002789936 RCV002789937 RCV002532254 RCV002538066 RCV002553879
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Pathogenic; Likely pathogenic	rs1759489644, rs2113629234, rs1309931610, rs2113657846, rs2113659544, rs1320349488, rs2113657559, rs2113669445, rs727504443, rs2113673178, rs2113674300, rs2113675360, rs1759011966, rs2113683109, rs2113683217, rs2113686447, rs2113686466, rs2113686478, rs2113687612, rs2113687617, rs2113688911, rs1409693501, rs2113690997, rs2533922279, rs778930865, rs2113691528, rs1759354150, rs2113691887, rs1759357763, rs1413961070, rs774065012, rs2113693861, rs1759396933, rs2113694076, rs2113694673, rs2113695145, rs786205416, rs2113696088, rs1487814687, rs2113698797, rs2113700654, rs2113701589, rs2113703361, rs2113698710, rs1758828554, rs1265117085, rs2113665067, rs2113701867, rs2113669536, rs2113684305, rs2113687807, rs2113680129, rs2113672514, rs2113699501, rs2113692122, rs2113692628, rs2113671104, rs2113697914, rs2113688859, rs2113701020, rs2113694068, rs2113673248, rs796218194, rs2113692133, rs2113660108, rs2113692271, rs2113674180, rs2113694449, rs1759385935, rs2113702487, rs2113694704, rs1758971797, rs2113679972, rs2113699911, rs144781697, rs2113698912, rs2113695514, rs2113665124, rs2113692208, rs2113692562, rs2113659637, rs2113684096, rs2113671123, rs2113685159, rs2113695398, rs2113702255, rs2113699991, rs2113679702, rs2113691774, rs2113673067, rs2113682999, rs149701627, rs2113699152, rs2113678808, rs2113669594, rs2113691557, rs1259613160, rs2113679761, rs2113700191, rs2113695431, rs2113693785, rs2113697854, rs2113700906, rs2113691766, rs2113698863, rs2113672480, rs2113694794, rs2113699015, rs2113687794, rs2113694822, rs2113677263, rs2113670901, rs587782927, rs606231294, rs606231295, rs2533926795, rs2533940144, rs376923069, rs140474226, rs727503001, rs727505271, rs727505115, rs730880024, rs730880082, rs730880092, rs730880093, rs2533926569, rs2533941799, rs1394836623, rs2533911099, rs2533913945, rs1225658091, rs2533893375, rs794727381, rs2533943691, rs1379150952, rs794728156, rs794728135, rs794728106, rs794728137, rs794728114, rs794728118, rs730880081, rs794728139, rs794728142, rs1554108152, rs767643821, rs770873593, rs794728124, rs1554108621, rs794728146, rs794728147, rs777573018, rs141026028, rs794728148, rs794728130, rs794728143, rs794728149, rs1554109181, rs1554109187, rs2533866906, rs2533939177, rs2533927331, rs377500825, rs2533911529, rs2533927952, rs2533928871, rs2533930930, rs2533947357, rs2533886766, rs1759610067, rs2533944765, rs2533938581, rs2533903318, rs1759401240, rs2533897220, rs2533949234, rs2533922225, rs2533894416, rs2533928936, rs2533931293, rs2533945206, rs2533931787, rs2533927884, rs2533947751, rs2533917192, rs1581818649, rs2533890304, rs2533949001, rs2533914000, rs2533948349, rs2533931670, rs2533937328, rs2533890784, rs2533908578, rs2533926336, rs2533903322, rs2533849573, rs2533926297, rs2533937518, rs2533903647, rs2533931658, rs2533909283, rs2533882036, rs2533880032, rs794728104, rs2533894106, rs2533931355, rs2533897120, rs2533927492, rs869025395, rs876657638, rs148894066, rs1285329067, rs879254352, rs879254353, rs879255521, rs886039178, rs886038929, rs886039343, rs2533930254, rs2533924089, rs773320949, rs1420689736, rs2533849798, rs1758896473, rs2533896507, rs746177210, rs2533930676, rs2533932461, rs2533937556, rs2533941884, rs2533945847, rs2533938996, rs2533903858, rs2533903254, rs2533876378, rs2533896147, rs201774541, rs1366601691, rs2533911801, rs2533903370, rs2533922607, rs1165211827, rs2533924243, rs2533931834, rs2533949795, rs2533938442, rs765837163, rs1057518920, rs2533886914, rs2533848937, rs1345570966, rs2533949247, rs1487309339, rs2533930691, rs1057519251, rs2533853985, rs2533928588, rs2533924188, rs2533849722, rs2533872220, rs2533919967, rs1759206117, rs2533931709, rs2533926973, rs1209824182, rs2533887412, rs2533867187, rs2533893337, rs2533917216, rs2533903877, rs1758958794, rs2533800954, rs2533879486, rs2533928484, rs2533890664, rs2533872937, rs1554108410, rs1418959797, rs775308893, rs2533886847, rs2533919757, rs2533927239, rs2533935968, rs2533911715, rs2533876551, rs1554107107, rs2533936385, rs121912992, rs2533884515, rs2533928788, rs2533926317, rs2533944558, rs2533949081, rs2533905979, rs2533863740, rs2533932465, rs2533932302, rs2533930806, rs2533929436, rs2533949772, rs763652056, rs2533931043, rs2533842444, rs121912991, rs397514039, rs121912993, rs121912994, rs28931610, rs121912995, rs121912996, rs397514040, rs121912997, rs2533942752, rs2533924905, rs2533872416, rs2533936922, rs2533800687, rs2533853693, rs2533931655, rs2533942793, rs2533911853, rs2533944330, rs2533842147, rs2533919723, rs2533945856, rs935685902, rs1356287373, rs2533941740, rs1554107096, rs1554107098, rs1057517903, rs778178956, rs1057523045, rs1057523629, rs387906618, rs774763657, rs1060500618, rs746877365, rs1060500610, rs1060500607, rs1060500609, rs1060500613, rs1064794616, rs1554108854, rs1554108859, rs1064793890, rs1131691673, rs1131691561, rs1304410089, rs1464253797, rs768521444, rs1554108287, rs1554105911, rs1249913357, rs1554107839, rs1554107916, rs1554108012, rs1554108609, rs1554106742, rs772646601, rs1554106743, rs1554108050, rs1554108431, rs1238227166, rs727503000, rs778856526, rs1554107097, rs1554108929, rs1554108172, rs1554108283, rs1554107741, rs28763965, rs1554108477, rs1236464864, rs397516913, rs397516915, rs397516923, rs397516927, rs397516932, rs397516933, rs397516940, rs397516943, rs397516946, rs397516955, rs397516956, rs397516973, rs1561703922, rs1561687796, rs1561698750, rs1561702771, rs1561704475, rs1561680649, rs1267435790, rs1561697181, rs1561698362, rs1561701401, rs1561703363, rs113726158, rs1561694696, rs1561696970, rs1561702640, rs1561693779, rs1194358112, rs1561703331, rs1561690319, rs1561701721, rs1581792793, rs1581794029, rs1581802715, rs1581805658, rs1581805788, rs1581809567, rs1227662860, rs1581819043, rs1581815654, rs1581813564, rs1581799453, rs397514045, rs1581816570, rs1231490307, rs1581823931, rs1581824066, rs1435125402, rs1758740270, rs1758828907, rs1758864039, rs1758912749, rs761380979, rs1464886350, rs760214732, rs1759155407, rs1759345923, rs1759522381, rs1759546885, rs1320456072, rs1758835134, rs1759176299, rs369482721, rs763560697, rs1759606062, rs1289037294, rs1057518309, rs754566092, rs1759204244, rs1759240256, rs1759359916, rs1759421816, rs1759482084, rs1759623444, rs1758603690, rs1759475221, rs1759501217, rs1759510200, rs1759580297, rs1759258675, rs1759426108, rs1759478436, rs1759489185, rs1417627909, rs1758962311	RCV001336685 RCV001379430 RCV001377393 RCV001377374 RCV001377800 RCV001385662 RCV001389695 RCV001386812 RCV001389900 RCV001385577 RCV001383409 RCV001381587 RCV001384651 RCV001388654 RCV001387449 RCV001388830 RCV001390676 RCV001384978 RCV001380509 RCV001381978 RCV001387083 RCV001388418 RCV001388691 RCV003788231 RCV001389706 RCV001384650 RCV001383778 RCV001381116 RCV001388419 RCV001388733 RCV001382782 RCV001381752 RCV001381419 RCV001384522 RCV001385198 RCV001382256 RCV001384620 RCV001389848 RCV001382642 RCV001383370 RCV001382643 RCV001381781 RCV001389705 RCV002568059 RCV001542754 RCV001542755 RCV002034558 RCV001788848 RCV001874029 RCV001974018 RCV002046137 RCV001999905 RCV001939394 RCV001939404 RCV001941744 RCV001960606 RCV001953273 RCV001948073 RCV001946727 RCV001946754 RCV001908419 RCV001886889 RCV001987624 RCV001977530 RCV001949282 RCV001973392 RCV001982699 RCV001944501 RCV001884520 RCV001958889 RCV001935392 RCV001930124 RCV002020452 RCV001919392 RCV001917315 RCV001972184 RCV001993305 RCV001922596 RCV001994736 RCV002002404 RCV002007167 RCV001957428 RCV001999943 RCV001999977 RCV001921709 RCV002035483 RCV001939593 RCV001942157 RCV002049821 RCV001941858 RCV002025113 RCV001876762 RCV001929401 RCV001938745 RCV001889015 RCV001966485 RCV001962986 RCV001963003 RCV001956304 RCV001949373 RCV001880803 RCV001889981 RCV001899855 RCV001972517 RCV001972534 RCV002047294 RCV001892048 RCV001897921 RCV001958768 RCV001980690 RCV002040980 RCV001984484 RCV001962380 RCV001980378 RCV001041527 RCV001378477 RCV000995757 RCV002466298 RCV003097671 RCV000148481 RCV000692510 RCV000791442 RCV003764911 RCV001232357 RCV003998319 RCV004806097 RCV000698149 RCV003234551 RCV003998335 RCV003775762 RCV003103303 RCV004808276 RCV003102074 RCV003102781 RCV003060025 RCV002633110 RCV001852175 RCV005227794 RCV003118502 RCV005222799 RCV005222798 RCV001852265 RCV001237792 RCV000559042 RCV003032210 RCV001237784 RCV001852269 RCV001386323 RCV003765111 RCV000470407 RCV001028062 RCV000697999 RCV000655930 RCV000699940 RCV001382194 RCV001385911 RCV001206927 RCV000641796 RCV000806504 RCV003996662 RCV001852272 RCV003765112 RCV000799531 RCV003765113 RCV002639985 RCV002663833 RCV002721215 RCV002824453 RCV002811455 RCV002796150 RCV002856551 RCV002846680 RCV002842586 RCV002834456 RCV002880245 RCV002863320 RCV002852460 RCV002889431 RCV002866551 RCV002866675 RCV002857906 RCV002875898 RCV002853002 RCV002876585 RCV002871094 RCV002866957 RCV002877100 RCV002889701 RCV002917953 RCV002885162 RCV002872265 RCV002995881 RCV003007846 RCV003007601 RCV003020403 RCV004808396 RCV003028099 RCV003021648 RCV002996882 RCV003019283 RCV003019159 RCV003022022 RCV003023282 RCV003042127 RCV003029126 RCV003035594 RCV003053603 RCV003024343 RCV003052126 RCV003064175 RCV003048292 RCV003048322 RCV003048376 RCV003061887 RCV000529617 RCV000813995 RCV004796108 RCV003778650 RCV000236571 RCV000235256 RCV002518538 RCV004009678 RCV001229897 RCV000689853 RCV000459399 RCV003233242 RCV003777256 RCV005216049 RCV005228002 RCV003778490 RCV004011622 RCV003779360 RCV004011625 RCV003779363 RCV004011635 RCV004011636 RCV004011640 RCV004011642 RCV003785415 RCV003781840 RCV003785275 RCV003785296 RCV003785299 RCV003781043 RCV003793079 RCV003782675 RCV003782724 RCV003788746 RCV003792865 RCV003790457 RCV003807965 RCV003806134 RCV003808274 RCV003806404 RCV003806714 RCV003806781 RCV003792101 RCV003805542 RCV003803498 RCV003805870 RCV003805950 RCV003803774 RCV003803959 RCV003799126 RCV003799342 RCV003802993 RCV003803128 RCV003803175 RCV003800849 RCV003800855 RCV003800911 RCV003803615 RCV003801160 RCV003801188 RCV003794457 RCV003797029 RCV003797242 RCV003795237 RCV003800224 RCV003800426 RCV003800491 RCV003808614 RCV003807119 RCV003809343 RCV003804860 RCV003804901 RCV003802022 RCV003817860 RCV003817888 RCV003809672 RCV003809805 RCV003815373 RCV003815410 RCV003813019 RCV003813079 RCV003813313 RCV003813339 RCV003807338 RCV003807347 RCV003807471 RCV003807556 RCV003807608 RCV003812629 RCV003812648 RCV003812803 RCV003805009 RCV003805014 RCV003805124 RCV003805130 RCV003810246 RCV003810347 RCV003810419 RCV002513099 RCV000018331 RCV003233070 RCV003233071 RCV001851908 RCV003233073 RCV001048758 RCV000556858 RCV000018339 RCV005220789 RCV003994757 RCV004015053 RCV004013997 RCV004013031 RCV004012313 RCV004013427 RCV004013467 RCV004012699 RCV004012733 RCV004012781 RCV004013966 RCV004016904 RCV004016905 RCV004016917 RCV004015545 RCV003766143 RCV005222913 RCV000823724 RCV000811101 RCV001387593 RCV005222937 RCV001851996 RCV000458285 RCV005208708 RCV000475216 RCV001388391 RCV001383704 RCV001377406 RCV001388773 RCV001241384 RCV002526634 RCV000699748 RCV002526544 RCV005222970 RCV004003484 RCV001851377 RCV003766793 RCV001041380 RCV004003638 RCV003767000 RCV001384251 RCV000537408 RCV001384726 RCV001384728 RCV000527367 RCV000532704 RCV000553077 RCV000549896 RCV000540439 RCV000558299 RCV000689303 RCV000692483 RCV003767745 RCV001868081 RCV001385606 RCV003767782 RCV004807038 RCV001389691 RCV001332445 RCV000641774 RCV000641778 RCV000641766 RCV000641777 RCV000801235 RCV002513491 RCV001056868 RCV003764675 RCV001034891 RCV001852796 RCV003764677 RCV000528916 RCV000472617 RCV001852798 RCV000546646 RCV001852799 RCV003764681 RCV001381245 RCV000685468 RCV000698502 RCV000685128 RCV000696017 RCV000686457 RCV000702553 RCV000691332 RCV000691128 RCV000689988 RCV000692607 RCV000705542 RCV000700355 RCV005208596 RCV000701254 RCV000694169 RCV000703375 RCV003768287 RCV001381891 RCV005225140 RCV004796313 RCV000815461 RCV000807937 RCV000824614 RCV000815071 RCV000811690 RCV000819931 RCV000816850 RCV000810103 RCV001858459 RCV002536191 RCV003768632 RCV000054449 RCV000987652 RCV001381140 RCV001860599 RCV001213410 RCV001058569 RCV001037632 RCV001035783 RCV001060843 RCV001045914 RCV001063542 RCV001037306 RCV001041115 RCV001039327 RCV001060309 RCV001059242 RCV001068531 RCV001070192 RCV001040987 RCV001040153 RCV001053781 RCV004807450 RCV001876112 RCV003770017 RCV001384110 RCV001220083 RCV001221102 RCV001217274 RCV001220667 RCV001224537 RCV001219436 RCV001214703 RCV001225091 RCV001212244 RCV001204343 RCV001211129 RCV001207622 RCV001211659 RCV001205202 RCV001234719 RCV001232859 RCV001237165 RCV001225865 RCV003770472
Arrhythmogenic right ventricular cardiomyopathy	Pathogenic; Likely pathogenic	rs2113701771, rs1759474600, rs2113669181, rs2113699280, rs140474226, rs727504443, rs727505077, rs727505260, rs727503001, rs727503003, rs727505271, rs727502993, rs794728136, rs794728137, rs1554108152, rs794728146, rs794728130, rs869025392, rs869025395, rs876657638, rs2533925850, rs2533922225, rs1057517903, rs1554108410, rs1554108287, rs1554108012, rs1554108431, rs1238227166, rs1554105614, rs727503000, rs794728111, rs1554108929, rs397516913, rs397516915, rs397516919, rs397516923, rs397516929, rs397516932, rs397516933, rs397516940, rs397516943, rs397516946, rs397516955, rs113726158, rs1581794029, rs1581815603, rs1581817513, rs1581816089	RCV002260466 RCV002260473 RCV002260474 RCV002260475 RCV000210378 RCV000211717 RCV000156517 RCV000156783 RCV000150567 RCV000150573 RCV000156797 RCV000150551 RCV000599677 RCV004017455 RCV000603827 RCV001195306 RCV004017454 RCV000208438 RCV000208287 RCV000214415 RCV004018195 RCV004018354 RCV000825635 RCV000825580 RCV000603257 RCV000610239 RCV000612029 RCV000607926 RCV000616141 RCV000150566 RCV000612818 RCV004017701 RCV000037985 RCV000208168 RCV000037998 RCV000038006 RCV000038023 RCV000038027 RCV000038031 RCV000038049 RCV000038058 RCV000038064 RCV000038082 RCV004017722 RCV000826163 RCV000826162 RCV000826161 RCV000853452
Arrhythmogenic right ventricular dysplasia 8	Pathogenic; Likely pathogenic	rs1759489644, rs2113629234, rs1309931610, rs2113657846, rs2113659544, rs1320349488, rs2113657559, rs2113669445, rs727504443, rs2113673178, rs2113674300, rs2113675360, rs1759011966, rs2113683109, rs2113683217, rs2113686447, rs2113686466, rs2113686478, rs2113687612, rs2113687617, rs2113688911, rs1409693501, rs2113690997, rs2533922279, rs778930865, rs2113691528, rs1759354150, rs2113691887, rs1759357763, rs1413961070, rs774065012, rs2113693861, rs1759396933, rs2113694076, rs2113694673, rs2113695145, rs786205416, rs2113696088, rs1487814687, rs2113698797, rs2113700654, rs2113701589, rs2113703361, rs2113698710, rs1758828554, rs2113665067, rs2113701867, rs2113669536, rs2113684305, rs2113687807, rs2113680129, rs2113672514, rs2113699501, rs2113692122, rs2113692628, rs2113671104, rs2113697914, rs2113688859, rs2113701020, rs2113694068, rs2113673248, rs796218194, rs2113692133, rs2113660108, rs2113692271, rs2113674180, rs2113694449, rs1759385935, rs2113702487, rs2113694704, rs1758971797, rs2113679972, rs2113699911, rs144781697, rs2113698912, rs2113695514, rs2113665124, rs2113692208, rs2113692562, rs2113659637, rs2113684096, rs2113671123, rs2113685159, rs2113695398, rs2113702255, rs2113699991, rs2113679702, rs2113691774, rs2113673067, rs2113682999, rs149701627, rs2113699152, rs2113678808, rs2113669594, rs2113691557, rs1259613160, rs2113679761, rs2113700191, rs2113695431, rs2113693785, rs2113697854, rs2113700906, rs2113691766, rs2113698863, rs2113672480, rs2113694794, rs2113699015, rs2113687794, rs2113694822, rs2113677263, rs2113670901, rs587782927, rs606231294, rs606231295, rs2533940144, rs2533929501, rs2533947784, rs140474226, rs727503001, rs727505271, rs727505115, rs730880024, rs730880082, rs730880092, rs730880093, rs2533926569, rs2533941799, rs1394836623, rs2533911099, rs2533913945, rs1225658091, rs2533893375, rs794727381, rs2533943691, rs1379150952, rs794728156, rs794728135, rs794728106, rs794728137, rs794728114, rs794728118, rs730880081, rs794728139, rs794728142, rs1554108152, rs767643821, rs770873593, rs794728124, rs1554108621, rs794728146, rs794728147, rs777573018, rs141026028, rs794728148, rs794728130, rs794728143, rs794728149, rs1554109181, rs1554109187, rs2533866906, rs2533939177, rs2533927331, rs377500825, rs2533911529, rs2533927952, rs2533928871, rs2533930930, rs2533947357, rs2533886766, rs1759610067, rs2533944765, rs2533938581, rs2533903318, rs1759401240, rs2533897220, rs2533949234, rs2533922225, rs2533894416, rs2533928936, rs2533931293, rs2533945206, rs2533931787, rs2533927884, rs2533947751, rs2533917192, rs1581818649, rs2533890304, rs2533949001, rs2533914000, rs2533948349, rs2533931670, rs2533937328, rs2533890784, rs2533908578, rs2533926336, rs2533903322, rs2533849573, rs2533926297, rs2533937518, rs2533903647, rs2533931658, rs2533909283, rs2533882036, rs2533880032, rs794728104, rs2533894106, rs2533931355, rs2533897120, rs2533927492, rs869025395, rs876657638, rs148894066, rs1285329067, rs879254352, rs879254353, rs879255521, rs2533944959, rs886039178, rs886038929, rs886039343, rs2533923956, rs2533924089, rs1230821582, rs2533928557, rs773320949, rs777955503, rs763971574, rs1420689736, rs2533923368, rs2533849798, rs2533872696, rs2533896507, rs2533930676, rs2533938996, rs2533903858, rs2533903254, rs2533876378, rs2533896147, rs201774541, rs1366601691, rs2533911801, rs2533903370, rs2533922607, rs1165211827, rs2533924243, rs2533931834, rs2533949795, rs2533938442, rs765837163, rs1057518920, rs2533886914, rs2533848937, rs1345570966, rs2533949247, rs1487309339, rs2533930691, rs1057519251, rs2533853985, rs2533928588, rs2533924188, rs2533849722, rs2533872220, rs2533919967, rs1759206117, rs2533931709, rs2533926973, rs1209824182, rs2533887412, rs2533867187, rs2533893337, rs2533917216, rs2533903877, rs1758958794, rs2533800954, rs2533879486, rs2533928484, rs2533890664, rs2533872937, rs1554108410, rs1418959797, rs775308893, rs2533886847, rs2533919757, rs2533927239, rs2533935968, rs2533911715, rs2533876551, rs1554107107, rs2533936385, rs121912992, rs2533884515, rs2533928788, rs2533926317, rs2533944558, rs2533949081, rs2533905979, rs2533863740, rs2533932465, rs2533932302, rs2533930806, rs2533929436, rs2533949772, rs763652056, rs2533931043, rs2533842444, rs121912991, rs397514039, rs28931610, rs121912996, rs397514040, rs121912997, rs2533942752, rs2533842147, rs935685902, rs1554107096, rs1554107098, rs1057517903, rs778178956, rs1057523045, rs1057523629, rs387906618, rs774763657, rs1060500618, rs746877365, rs1060500610, rs1060500607, rs1060500609, rs1060500613, rs1064794616, rs1554108854, rs1554108859, rs1064793890, rs1131691673, rs1304410089, rs1464253797, rs768521444, rs1554108287, rs1554105911, rs1249913357, rs1554107839, rs1554107916, rs1554108012, rs1554108609, rs1554106742, rs772646601, rs1554108610, rs1554106743, rs1554108050, rs1554108431, rs1238227166, rs727503000, rs778856526, rs1554107097, rs1554108929, rs1554108172, rs1554107741, rs28763965, rs1554108477, rs1236464864, rs397516913, rs397516915, rs397516923, rs397516927, rs397516932, rs397516933, rs397516940, rs397516943, rs397516946, rs397516955, rs397516956, rs397516973, rs1561703922, rs1561687796, rs1561698750, rs1561702771, rs1561704475, rs1561680649, rs1267435790, rs1561697181, rs1561698362, rs1561701401, rs1561703363, rs113726158, rs1561694696, rs1561696970, rs1561702640, rs1561693779, rs1194358112, rs1561703331, rs1561690319, rs1561701721, rs1581792793, rs1581794029, rs1581802715, rs1581805658, rs1581805788, rs1581809567, rs1227662860, rs1581819043, rs1581815654, rs1581813564, rs1581799453, rs1231490307, rs1581823931, rs1581824066, rs1435125402, rs1758740270, rs1758828907, rs1758864039, rs1758912749, rs761380979, rs1464886350, rs760214732, rs1759155407, rs1759345923, rs1759522381, rs1759546885, rs1320456072, rs1758835134, rs1759176299, rs369482721, rs763560697, rs1759606062, rs1289037294, rs1057518309, rs754566092, rs1759204244, rs1759240256, rs1759359916, rs1759421816, rs1759482084, rs1759623444, rs1758603690, rs1759475221, rs1759501217, rs1759510200, rs1759580297, rs1759258675, rs1759426108, rs1759478436, rs1759489185, rs1417627909, rs2533894086, rs1163244913, rs146296069, rs1758962311	RCV002547358 RCV001379430 RCV001377393 RCV001377374 RCV001377800 RCV001385662 RCV001389695 RCV001386812 RCV001389900 RCV001385577 RCV001383409 RCV001381587 RCV001384651 RCV001388654 RCV001387449 RCV001388830 RCV001390676 RCV001384978 RCV001380509 RCV001381978 RCV001387083 RCV001388418 RCV001388691 RCV003788231 RCV001389706 RCV001384650 RCV001383778 RCV001381116 RCV001388419 RCV001388733 RCV001382782 RCV001381752 RCV001381419 RCV001384522 RCV001385198 RCV001382256 RCV001384620 RCV001389848 RCV001382642 RCV001383370 RCV001382643 RCV001381781 RCV001389705 RCV002568059 RCV001882613 RCV002034558 RCV001885208 RCV001874029 RCV001974018 RCV002046137 RCV001999905 RCV001939394 RCV001939404 RCV001941744 RCV001960606 RCV001953273 RCV001948073 RCV001946727 RCV001946754 RCV001908419 RCV001886889 RCV001987624 RCV001977530 RCV001949282 RCV001973392 RCV001982699 RCV001944501 RCV001884520 RCV001958889 RCV001935392 RCV001930124 RCV002020452 RCV001919392 RCV001917315 RCV001972184 RCV001993305 RCV001922596 RCV001994736 RCV002002404 RCV002007167 RCV001957428 RCV001999943 RCV001999977 RCV001921709 RCV002035483 RCV001939593 RCV001942157 RCV002049821 RCV001941858 RCV002025113 RCV001876762 RCV001929401 RCV001938745 RCV001889015 RCV001966485 RCV001962986 RCV001963003 RCV001956304 RCV001949373 RCV001880803 RCV001889981 RCV001899855 RCV001972517 RCV001972534 RCV002047294 RCV001892048 RCV001897921 RCV001958768 RCV001980690 RCV002040980 RCV001984484 RCV001962380 RCV001980378 RCV001041527 RCV001378477 RCV003764879 RCV003097671 RCV002288321 RCV002290220 RCV000692510 RCV000155023 RCV003764911 RCV001232357 RCV003764976 RCV002515042 RCV000698149 RCV003764988 RCV003764989 RCV003775762 RCV003103303 RCV003776089 RCV003102074 RCV003102781 RCV003060025 RCV002633110 RCV001852175 RCV005227794 RCV003118502 RCV005222799 RCV005222798 RCV001852265 RCV001237792 RCV000559042 RCV003032210 RCV001237784 RCV001852269 RCV001386323 RCV003765111 RCV000470407 RCV000709723 RCV000697999 RCV000655930 RCV000699940 RCV001382194 RCV001385911 RCV001206927 RCV000641796 RCV000806504 RCV003765110 RCV001852272 RCV003765112 RCV000799531 RCV003765113 RCV002639985 RCV002663833 RCV002721215 RCV002824453 RCV002811455 RCV002796150 RCV002856551 RCV002846680 RCV002842586 RCV002834456 RCV002880245 RCV002863320 RCV002852460 RCV002889431 RCV002866551 RCV002866675 RCV002857906 RCV002875898 RCV002853002 RCV002876585 RCV002871094 RCV002866957 RCV002877100 RCV002889701 RCV002917953 RCV002885162 RCV002872265 RCV002995881 RCV003007846 RCV003007601 RCV003020403 RCV003021346 RCV003028099 RCV003021648 RCV002996882 RCV003019283 RCV003019159 RCV003022022 RCV003023282 RCV003042127 RCV003029126 RCV003035594 RCV003053603 RCV003024343 RCV003052126 RCV003064175 RCV003048292 RCV003048322 RCV003048376 RCV003061887 RCV000529617 RCV000813995 RCV004796108 RCV003778650 RCV000236571 RCV000235256 RCV002518538 RCV003228654 RCV001229897 RCV000689853 RCV000459399 RCV003236237 RCV003777256 RCV003485899 RCV003485900 RCV003485901 RCV003485902 RCV003485903 RCV005228002 RCV003391168 RCV003778490 RCV003447430 RCV003779360 RCV003779363 RCV003785415 RCV003781840 RCV003785275 RCV003785296 RCV003785299 RCV003781043 RCV003793079 RCV003782675 RCV003782724 RCV003788746 RCV003792865 RCV003790457 RCV003807965 RCV003806134 RCV003808274 RCV003806404 RCV003806714 RCV003806781 RCV003792101 RCV003805542 RCV003803498 RCV003805870 RCV003805950 RCV003803774 RCV003803959 RCV003799126 RCV003799342 RCV003802993 RCV003803128 RCV003803175 RCV003800849 RCV003800855 RCV003800911 RCV003803615 RCV003801160 RCV003801188 RCV003794457 RCV003797029 RCV003797242 RCV003795237 RCV003800224 RCV003800426 RCV003800491 RCV003808614 RCV003807119 RCV003809343 RCV003804860 RCV003804901 RCV003802022 RCV003817860 RCV003817888 RCV003809672 RCV003809805 RCV003815373 RCV003815410 RCV003813019 RCV003813079 RCV003813313 RCV003813339 RCV003807338 RCV003807347 RCV003807471 RCV003807556 RCV003807608 RCV003812629 RCV003812648 RCV003812803 RCV003805009 RCV003805014 RCV003805124 RCV003805130 RCV003810246 RCV003810347 RCV003810419 RCV002513099 RCV001216678 RCV000018332 RCV001851908 RCV001048758 RCV004556716 RCV001851909 RCV005220789 RCV005216184 RCV005209663 RCV003766143 RCV005222913 RCV000823724 RCV000811101 RCV001387593 RCV005222937 RCV001851996 RCV000458285 RCV000460155 RCV000475216 RCV001388391 RCV000466615 RCV001377406 RCV000468365 RCV001241384 RCV002526634 RCV000699748 RCV002526544 RCV005222970 RCV001851377 RCV003766793 RCV001041380 RCV000548373 RCV000541378 RCV000537408 RCV000534332 RCV000551369 RCV000527367 RCV000532704 RCV000553077 RCV000549896 RCV000540439 RCV000552136 RCV000558299 RCV000689303 RCV000692483 RCV003767745 RCV001868081 RCV001385606 RCV003767782 RCV001069448 RCV001389691 RCV000641774 RCV000641778 RCV000641766 RCV000641777 RCV000801235 RCV002513491 RCV001056868 RCV003764675 RCV001034891 RCV001852796 RCV003764677 RCV000528916 RCV000472617 RCV001852798 RCV000546646 RCV001852799 RCV003764681 RCV001381245 RCV000685468 RCV000698502 RCV000685128 RCV000696017 RCV000686457 RCV000702553 RCV000691332 RCV000691128 RCV000689988 RCV000692607 RCV000705542 RCV000700355 RCV005208596 RCV000701254 RCV000694169 RCV000703375 RCV003768287 RCV001381891 RCV005225140 RCV004796313 RCV000815461 RCV000807937 RCV000824614 RCV000815071 RCV000811690 RCV000819931 RCV000816850 RCV000810103 RCV001858459 RCV002536191 RCV000853384 RCV001381140 RCV001860599 RCV001213410 RCV001058569 RCV001037632 RCV001035783 RCV001060843 RCV001045914 RCV001063542 RCV001037306 RCV001041115 RCV001039327 RCV001060309 RCV001059242 RCV001068531 RCV001070192 RCV001040987 RCV001040153 RCV001053781 RCV002560978 RCV001876112 RCV003770017 RCV001384110 RCV001220083 RCV001221102 RCV001217274 RCV001220667 RCV001224537 RCV001219436 RCV001214703 RCV001225091 RCV001212244 RCV001204343 RCV001211129 RCV001207622 RCV001211659 RCV001205202 RCV001234719 RCV001232859 RCV001237165 RCV001225865 RCV001568353 RCV001260987 RCV001265569 RCV003770472
Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic; Pathogenic	rs794728111, rs1554108477, rs1236464864	RCV002286571 RCV000850013 RCV000850012
Bicuspid aortic valve	Pathogenic	rs1057518920	RCV000415085
Cardiac arrest	Likely pathogenic; Pathogenic	rs730880082	RCV000157193
Cardiac arrhythmia	Likely pathogenic; Pathogenic	rs794728146, rs1057518920, rs1554108012, rs397516955, rs1581823931, rs1289037294	RCV001842797 RCV000415085 RCV001841483 RCV001841580 RCV001842584 RCV001842619
Cardiomyopathy	Likely pathogenic; Pathogenic	rs2113694673, rs2113694437, rs2113698710, rs2113701867, rs2113688929, rs2113701305, rs2113703930, rs1759581554, rs2113692271, rs2113659637, rs727504443, rs727505115, rs730880082, rs730880092, rs730880093, rs1394836623, rs794727381, rs794728106, rs149701627, rs1554108152, rs767643821, rs770873593, rs794728124, rs141026028, rs794728130, rs1581818649, rs2533937328, rs869025395, rs2533872047, rs2533927884, rs886039343, rs2533930254, rs2533923720, rs2533932553, rs1758896473, rs2533896507, rs746177210, rs2533929104, rs2533929133, rs2533930676, rs2533932461, rs2533937556, rs2533941884, rs2533945847, rs2533949441, rs2533949461, rs2533944558, rs121912997, rs2533911853, rs2533944330, rs935685902, rs2533941740, rs1057517903, rs754354190, rs1057518920, rs1057523045, rs774763657, rs746877365, rs1060500610, rs1131691673, rs1464253797, rs193922668, rs1554108287, rs1554105911, rs1249913357, rs1554108929, rs28763965, rs397516913, rs397516915, rs397516940, rs397516943, rs397516955, rs1561698362, rs1561694696, rs1561702640, rs1561686893, rs1561698714, rs1561702549, rs1561690319, rs1561701721, rs1581805658, rs1227662860, rs1581813564, rs761380979, rs1464886350, rs1758487010, rs1240326550, rs1758933837, rs1759383581, rs1759417776, rs1759529582, rs1759533568, rs369482721, rs1759564374, rs763560697, rs1759606062, rs1759359916	RCV003486982 RCV001525743 RCV001524240 RCV003533029 RCV001799306 RCV001799309 RCV001799311 RCV001805636 RCV004785406 RCV005403152 RCV003486698 RCV003531990 RCV001171092 RCV000157216 RCV005402859 RCV005401963 RCV005402865 RCV005401357 RCV001176346 RCV003532020 RCV003150054 RCV001176347 RCV001526108 RCV001176348 RCV005402869 RCV003533307 RCV005863777 RCV001187850 RCV003150683 RCV005402017 RCV005401409 RCV005402022 RCV003487216 RCV003487218 RCV003533683 RCV003533691 RCV003533693 RCV003533724 RCV003533725 RCV003533727 RCV003533735 RCV003533741 RCV003533759 RCV003533772 RCV003533784 RCV003533785 RCV005403360 RCV003531904 RCV005402127 RCV005403403 RCV005403422 RCV005403416 RCV003532093 RCV005401427 RCV003532098 RCV003532114 RCV001525149 RCV001186299 RCV005401443 RCV003532145 RCV003532146 RCV000029676 RCV001186600 RCV001179631 RCV005402949 RCV005401524 RCV000852574 RCV003531928 RCV000770234 RCV001184211 RCV003531934 RCV000852568 RCV000825581 RCV001192197 RCV003532246 RCV000770232 RCV000770241 RCV000769237 RCV000780213 RCV000780220 RCV001798984 RCV005401626 RCV000852570 RCV001799038 RCV003532354 RCV001170910 RCV001171087 RCV001182045 RCV001182057 RCV001186758 RCV001180985 RCV001180263 RCV001191443 RCV001184193 RCV001183689 RCV001183151 RCV003486970
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	Pathogenic; Likely pathogenic	rs2113666898, rs2113697846, rs587782927, rs606231293, rs606231294, rs606231295, rs2533913945, rs770873593, rs148894066, rs879254352, rs2533903987, rs2533849798, rs1184921987, rs1554107096, rs1554107098, rs774763657, rs1554108050, rs397516927, rs1581818649	RCV001594451 RCV001594452 RCV006445514 RCV000144959 RCV000144960 RCV000144961 RCV005635545 RCV004796071 RCV004796108 RCV003225053 RCV003391166 RCV003444540 RCV000412569 RCV000412632 RCV000412530 RCV005033965 RCV005044861 RCV001594379 RCV004796313
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1309931610, rs2113686447, rs1759357763, rs1759396933, rs2113694673, rs786205416, rs2113701867, rs2113692628, rs1759385935, rs2113694704, rs2113665124, rs2113659637, rs2113684096, rs2113699991, rs1259613160, rs2113669223, rs2533940144, rs376923069, rs140474226, rs727504443, rs727505077, rs727503001, rs727505271, rs730880082, rs2533926569, rs2533925243, rs747028124, rs2533924874, rs2533936024, rs2533936126, rs2533940515, rs2533935849, rs2533941799, rs1394836623, rs2533853924, rs2533939668, rs2533942281, rs2533881912, rs2533945755, rs397514045, rs2533945316, rs2533908971, rs1759064440, rs2533911411, rs2533911099, rs2533911780, rs2533913945, rs1225658091, rs794727381, rs794728137, rs794728118, rs1554108152, rs767643821, rs770873593, rs794728124, rs794728146, rs777573018, rs141026028, rs794728148, rs794728130, rs2533890304, rs2533931670, rs2533926297, rs2533909283, rs2533880032, rs869025395, rs876657638, rs2533937802, rs1166221355, rs2533929312, rs879254353, rs879255521, rs2533927884, rs2533944959, rs886039009, rs886039178, rs886038929, rs886039343, rs2533926690, rs2533881951, rs2533924089, rs2533842462, rs2533890196, rs2533872696, rs2533922607, rs2533853985, rs2533917216, rs2533876551, rs121912992, rs2533935968, rs121912991, rs397514040, rs121912997, rs2533944330, rs935685902, rs2533894237, rs1057517903, rs754354190, rs778178956, rs1057523045, rs774763657, rs746877365, rs1060500610, rs1060500607, rs1064793435, rs1554108859, rs1304410089, rs1464253797, rs768521444, rs1554108410, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs1554108609, rs1554106742, rs1554108431, rs727503000, rs778856526, rs1554107097, rs1554107624, rs1554108280, rs1554108929, rs1554107651, rs28763965, rs397516913, rs397516915, rs397516940, rs397516943, rs397516946, rs397516955, rs397516956, rs1561703922, rs1561687796, rs1561704475, rs1267435790, rs1561698362, rs1561701401, rs113726158, rs1561696970, rs1561702640, rs1581805658, rs1227662860, rs1581817513, rs1581815654, rs1581813564, rs1435125402, rs369482721, rs1759606062, rs1289037294, rs1057518309, rs1759240256, rs1759510200, rs1759580297, rs1759527886	RCV004037630 RCV002432075 RCV002456606 RCV005330785 RCV005562736 RCV005330787 RCV005564916 RCV002344118 RCV002331536 RCV004040350 RCV002361295 RCV002331467 RCV003170167 RCV002361299 RCV002331531 RCV005565214 RCV003365728 RCV003298150 RCV005628231 RCV002372015 RCV003162642 RCV003298155 RCV002336339 RCV002433688 RCV002373119 RCV002346708 RCV002457303 RCV002452230 RCV002349685 RCV002349882 RCV002368908 RCV002347277 RCV002364193 RCV002346813 RCV002352059 RCV002353714 RCV002366743 RCV002366880 RCV002384950 RCV002409823 RCV002380223 RCV002437104 RCV002411027 RCV002437431 RCV002453073 RCV002439732 RCV002435267 RCV004992455 RCV000617573 RCV002372109 RCV005549921 RCV000618361 RCV003165384 RCV002326982 RCV000619482 RCV005562315 RCV004992058 RCV000618020 RCV006342152 RCV004992059 RCV005552835 RCV005552846 RCV004068614 RCV003294388 RCV004070098 RCV004992082 RCV002408930 RCV003182693 RCV003182696 RCV003182702 RCV002429159 RCV004992132 RCV005824510 RCV005824511 RCV000242394 RCV000248265 RCV000245907 RCV002436088 RCV003278544 RCV003311277 RCV003311283 RCV003350684 RCV003350686 RCV004364704 RCV004366539 RCV004366646 RCV005826604 RCV004621911 RCV005567654 RCV004992871 RCV002381256 RCV002354164 RCV002354165 RCV004994428 RCV005325904 RCV004518941 RCV002450951 RCV005328258 RCV000617648 RCV002374692 RCV002348274 RCV002323682 RCV002339123 RCV002348273 RCV005235354 RCV003168946 RCV000621858 RCV002395202 RCV002431486 RCV002329242 RCV003159817 RCV005562386 RCV003302828 RCV002323972 RCV004023993 RCV002323971 RCV004992364 RCV002457961 RCV000619279 RCV000619054 RCV000621041 RCV000617350 RCV000618519 RCV005235448 RCV002331174 RCV002343401 RCV005328201 RCV002371832 RCV002336137 RCV000621394 RCV004018859 RCV002371833 RCV003362673 RCV002388187 RCV002386161 RCV004993963 RCV004993971 RCV004993954 RCV002352133 RCV003362918 RCV002325391 RCV003165867 RCV002397690 RCV003166362 RCV005821804 RCV005235493 RCV002434050 RCV003160473 RCV005562591 RCV006347465 RCV003284014 RCV004994341 RCV002436851 RCV002356890 RCV005550176 RCV004035366
Dilated cardiomyopathy 1A	Likely pathogenic; Pathogenic	rs770873593	RCV001256837
DSP-related arrhythmogenic cardiomyopathy	Likely pathogenic; Pathogenic	rs397516915	RCV000991215
DSP-related cardiomyopathy	Likely pathogenic; Pathogenic	rs141026028	RCV003389242
DSP-related disorder	Likely pathogenic; Pathogenic	rs727505115, rs2533800527, rs2533842417, rs772921319, rs2533942752, rs2533936096, rs2533931655, rs774763657, rs746877365, rs1554108431, rs1581805658, rs1417627909	RCV003390851 RCV003416774 RCV003416912 RCV003404599 RCV003894356 RCV003901388 RCV005250334 RCV004751529 RCV004529584 RCV005231113 RCV004545802 RCV005250155
Familial isolated arrhythmogenic right ventricular dysplasia	Likely pathogenic; Pathogenic	rs2113694673, rs2113704410, rs2113691213, rs730880082, rs767643821, rs886039178, rs774763657, rs1394836623, rs397516915, rs397516946, rs1561703331	RCV005912641 RCV001526896 RCV002223075 RCV000590295 RCV005431529 RCV002265716 RCV003330690 RCV004702262 RCV003330410 RCV006263641 RCV003117545
Gastric cancer	Pathogenic	rs149701627	RCV005924206
Global developmental delay	Likely pathogenic; Pathogenic	rs2533894086	RCV001255417
Keratosis palmoplantaris striata 2	Likely pathogenic; Pathogenic	rs2533894081, rs727504443, rs770873593, rs148894066, rs121912991, rs774763657, rs1554108050, rs1581818649, rs1758734763	RCV002291238 RCV000656500 RCV004796071 RCV004796108 RCV000018330 RCV005033965 RCV005044861 RCV004796313 RCV001196181
Left ventricular noncompaction cardiomyopathy	Pathogenic	rs587782927	RCV000133469
Lethal acantholytic epidermolysis bullosa	Pathogenic; Likely pathogenic	rs730880023, rs730880024, rs770873593, rs2533937328, rs148894066, rs121912996, rs397514040, rs774763657, rs1554108050, rs1581818649	RCV000157032 RCV000157033 RCV004796071 RCV005863777 RCV004796108 RCV000018337 RCV000018338 RCV005033965 RCV005044861 RCV004796313
Long QT syndrome	Likely pathogenic; Pathogenic	rs121912997	RCV000157195
Long QT syndrome 1	Likely pathogenic; Pathogenic	rs746877365	RCV000589386
Myocarditis	Likely pathogenic; Pathogenic	rs2113683177, rs28763965	RCV002208732 RCV002060746
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs2113659544	RCV005912597
Primary dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs587782927, rs727504443, rs727504498, rs727503001, rs727503003, rs727504738, rs727505115, rs727502994, rs730880093, rs2533923696, rs794728136, rs869025398, rs869025399, rs148894066, rs879255521, rs2533909271, rs2533924886, rs1165211827, rs2533853985, rs121912996, rs121912997, rs1554108287, rs1554108012, rs1554108431, rs1554105614, rs727503000, rs397516927, rs397516943, rs397516945, rs397516956, rs397516973, rs1561703922, rs1581794029, rs1581815603	RCV000143886 RCV000211717 RCV000155634 RCV000150567 RCV000150573 RCV000156036 RCV000156570 RCV000150552 RCV000157217 RCV002466871 RCV000599677 RCV000208157 RCV000208031 RCV000218217 RCV000234860 RCV003233331 RCV003233332 RCV003994587 RCV004787044 RCV005249991 RCV000157195 RCV000603257 RCV000610239 RCV000612029 RCV000616141 RCV000150566 RCV000038020 RCV000999570 RCV000038063 RCV000038084 RCV000038115 RCV000678479 RCV000826163 RCV000826162
Progressive familial heart block	Likely pathogenic	rs1135401735	RCV000492066
Right ventricular cardiomyopathy	Likely pathogenic; Pathogenic	rs1554108172	RCV000626865
Skin fragility-woolly hair-palmoplantar keratoderma syndrome	Likely pathogenic	rs376923069	RCV004017421
Sudden cardiac death	Pathogenic	rs1057518920	RCV000415085
Ventricular arrhythmia	Likely pathogenic; Pathogenic	rs1554108172	RCV000626865
Ventricular fibrillation	Pathogenic	rs1057518920	RCV000415085
Ventricular tachycardia	Pathogenic	rs587782927	RCV000133469
Woolly hair-skin fragility syndrome	Likely pathogenic; Pathogenic	rs1554108431	RCV001332446

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Amyloidosis	Uncertain significance	rs397516952	RCV000415320
Arrhythmogenic right ventricular dysplasia 1	Conflicting classifications of pathogenicity	rs372288373	RCV001256762
Brugada syndrome	Benign; Likely benign; Uncertain significance	rs28763967, rs756481791	RCV000852996 RCV003448373
Brugada syndrome 1	Conflicting classifications of pathogenicity	rs144850908	RCV004577523
Catecholaminergic polymorphic ventricular tachycardia 1	Conflicting classifications of pathogenicity	rs764965132	RCV000208025
Cervical cancer	Likely benign; Conflicting classifications of pathogenicity; Benign	rs112987069, rs375721577, rs200473206, rs727502998	RCV005919151 RCV005928205 RCV005888324 RCV005867938
Cholangiocarcinoma	Benign	rs727502998	RCV005867940
Chronic obstructive pulmonary disease	Benign	rs2076295	RCV001788367
Collapse (finding)	Conflicting classifications of pathogenicity	rs587782940	RCV000143883
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs200473206	RCV005888323
Combined pulmonary fibrosis-emphysema syndrome	Benign	rs2076295	RCV002472375
Dilated cardiomyopathy 1S	Conflicting classifications of pathogenicity; Uncertain significance	rs151115778, rs371517189, rs1114167325, rs147909031	RCV000491844 RCV000491487 RCV000491058 RCV000491154
Epidermolysis bullosa simplex due to plakophilin deficiency	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs28763970, rs184154918, rs530612211, rs766580649, rs146737031, rs201213622, rs886061739, rs756527780, rs886061753, rs886061754, rs886061743, rs747815091, rs770105310, rs373385083, rs763355815, rs886061757, rs886061738, rs886061740, rs886061741, rs886061750, rs886061751, rs886061756, rs547069600, rs142429411, rs146407262, rs34884895	RCV000339026 RCV000354640 RCV000366942 RCV000361568 RCV000405573 RCV000310635 RCV000278809 RCV000363965 RCV000330904 RCV000331947 RCV000279362 RCV000357218 RCV000361925 RCV000385908 RCV000312304 RCV000309195 RCV000284763 RCV000403802 RCV000366106 RCV000389757 RCV000402088 RCV000398529 RCV000349784 RCV000372307 RCV000284266 RCV000271557
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity	rs375721577, rs200473206, rs372922674	RCV005928204 RCV005888322 RCV005895435
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	rs375327581	RCV005889971
Familial restrictive cardiomyopathy	Conflicting classifications of pathogenicity	rs139799237	RCV000853132
Hemiplegia	Conflicting classifications of pathogenicity	rs142885240	RCV000415071
Hypertrophic cardiomyopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs28763971, rs184154918, rs185367490, rs142078450, rs1235755702, rs771692503, rs763523853, rs1178938416, rs1064793890, rs78652302, rs34884895, rs1442496444, rs1759212430	RCV000853001 RCV000852993 RCV005361088 RCV005361237 RCV004555711 RCV005355972 RCV000498456 RCV000497488 RCV000498019 RCV000852997 RCV000853000 RCV000991352 RCV005367746
Hypertrophic cardiomyopathy 2	Benign; Likely benign	rs727502998, rs78652302	RCV004596074 RCV004595897
Interstitial lung disease 2	Benign	rs2076295	RCV001788366
Left ventricular hypertrophy	Conflicting classifications of pathogenicity	rs375891215	RCV000678703
Left ventricular noncompaction	Uncertain significance	rs1581813405	RCV000845321
Lung cancer	Likely benign	rs112987069	RCV005919152
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign	rs369184165, rs2806233, rs58040819	RCV005900006 RCV005905846 RCV005903920
Marfanoid habitus and intellectual disability	Uncertain significance	rs1274581796	RCV000850426
Migraine	Conflicting classifications of pathogenicity	rs142885240	RCV000415071
Palmoplantar blistering	Conflicting classifications of pathogenicity	rs148147581, rs146617683	RCV000626864 RCV000626866
Pancreatic adenocarcinoma	Uncertain significance	rs111295218	RCV005931863
Paroxysmal familial ventricular fibrillation	Uncertain significance	rs863225268	RCV000201903
Primary familial dilated cardiomyopathy	Conflicting classifications of pathogenicity	rs1426930663, rs146617683, rs777407386	RCV000623911 RCV000624492 RCV000845316
Primary familial hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs587782941, rs116888866, rs730880081, rs730880083, rs202084959, rs730880085, rs730880087, rs730880088, rs730880091, rs747448946, rs869025390, rs771984464, rs774401264, rs869025397, rs749682166, rs34239595	RCV000143885 RCV000157210 RCV000157191 RCV000157194 RCV000157202 RCV000157203 RCV000157207 RCV000157208 RCV000157215 RCV000208515 RCV000208363 RCV000208350 RCV000208191 RCV000208142 RCV000208399 RCV000157188
Restrictive cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs730880090, rs148041814	RCV000157214 RCV000852995
Sarcoma	Benign	rs2806233	RCV005906839
See cases	Uncertain significance	rs1014118868	RCV004584549
Skin fragility with non-scarring blistering	Conflicting classifications of pathogenicity	rs148147581, rs146617683	RCV000626864 RCV000626866
Subvalvular aortic stenosis	Uncertain significance	rs730880373	RCV000157213
Sudden death	Conflicting classifications of pathogenicity	rs375891215	RCV000678704
Sudden unexplained death	Uncertain significance	rs1554108296, rs1758866750	RCV000853465 RCV001254770
Susceptibility to severe coronavirus disease (COVID-19)	Benign	rs2076295	RCV004994064
Systolic heart failure	Benign; Likely benign	rs34884895	RCV000853000
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Benign; Likely benign	rs753270443, rs77758574	RCV005899636 RCV005889970
Uterine corpus endometrial carcinoma	Benign	rs2806233, rs58040819	RCV005906841 RCV005903921
Ventricular fibrillation, paroxysmal familial, type 1	Conflicting classifications of pathogenicity	rs730880089	RCV000157209
Wolff-Parkinson-White pattern	Uncertain significance; Conflicting classifications of pathogenicity	rs1554105605, rs1262533485	RCV000656186 RCV000656187

Associations from Text Mining
Disease Name	Relationship Type	References
Abrikosov's tumor	Inhibit	28323918
Acrocephalosyndactylia	Associate	39523938
Alveolitis Extrinsic Allergic	Associate	34996848
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis	Associate	33076992
Arrhythmias Cardiac	Associate	31484862, 32005173, 32062131, 32410525, 32706220, 34132777, 34343150, 34352074, 35445468, 35470109, 37632291, 39551029
Arrhythmogenic Right Ventricular Dysplasia	Associate	12373648, 12875771, 16175511, 16415378, 16698823, 17033975, 17924338, 18596851, 18632414, 20124997, 20152563, 21636032, 22214898, 22949226, 24503780, 25445213, 25837155, 26585738, 26850880, 28699631, 29178656, 29497013, 30129429, 30382575, 31024045, 31194698, 31319917, 31386562, 31484862, 32005173, 32046637, 32081916, 32301586, 32356610, 32372669, 32410525, 32592540, 33313835, 33684294, 33831308, 34087998, 34132777, 35470109, 35628349, 35819174, 36204818, 36481506, 36768812, 36868229, 37143080, 37418234, 37632291, 37885024, 39217685, 39369039
Arrhythmogenic Right Ventricular Dysplasia Familial 2	Associate	34087998
Blister	Associate	35008956
Bohring syndrome	Associate	32969603
Brain Neoplasms	Associate	31610812
Breast Neoplasms	Associate	15084247, 9195978
Brugada Syndrome	Associate	26585738
Bundle Branch Block	Associate	31484862
Carcinoma Hepatocellular	Associate	22132232
Carcinoma Non Small Cell Lung	Associate	23369236
Carcinoma Squamous Cell	Stimulate	16489176
Cardiac Conduction System Disease	Associate	39551029
Cardiomyopathies	Associate	12373648, 12875771, 16467215, 19924139, 21789513, 26604139, 28359509, 32005173, 32372669, 32942234, 33684294, 33874732, 34338756, 34343150, 35325485, 35445468, 36768812
Cardiomyopathy Dilated	Associate	11841538, 16698823, 24503780, 31024045, 31770195, 31983221, 32005173, 32969603, 34213952, 34343150, 35445468, 36129056, 36672924, 36768812, 37562008, 37632291
Cardiomyopathy Dilated	Inhibit	28934278
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	30371277
Cardiomyopathy dilated with woolly hair and keratoderma	Associate	16175511, 21789513, 22949226, 30944905, 34343150, 35210635, 37143080
Cardiomyopathy Hypertrophic	Associate	28699631, 32344918
Cardiomyopathy Right Ventricular Dilated	Associate	32372669, 32942234, 35445468
Chemical and Drug Induced Liver Injury	Associate	32372669
COVID 19	Associate	40076669
Crohn Disease	Associate	28490445
Darier Disease	Associate	14675181, 22277942
Death	Associate	35470109
Death Sudden	Associate	26585738
Death Sudden Cardiac	Associate	20435227, 32942234, 37885024
Dentinogenesis Imperfecta	Associate	17686168
Dermatitis	Associate	26073755
Disease	Associate	39369039
Disease Progression	Associate	32706220
Drug Hypersensitivity	Associate	26073755
Drug Related Side Effects and Adverse Reactions	Associate	22132232
Dystonic Disorders	Associate	12875771
Early Onset Glaucoma	Associate	26585738
Ectodermal Dysplasia Skin Fragility Syndrome	Associate	11841538, 16175511
Ectrodactyly cardiopathy dysmorphism	Associate	35819174
Edema	Associate	32005173
Ehlers Danlos syndrome type 3	Associate	27518164
Emphysema	Associate	31324189
Eosinophilic Esophagitis	Associate	34815391
Epidermolysis bullosa lethal acantholytic	Associate	16175511
Erythrokeratodermia Variabilis	Associate	34343150
Erythrokeratodermia with ataxia	Associate	26604139
Esophageal Squamous Cell Carcinoma	Associate	24568510
Fibrosis	Associate	19924139
Genetic Diseases Inborn	Associate	11841538
Heart Arrest	Associate	36631170
Heart Defects Congenital	Associate	37632291
Heart Diseases	Associate	22949226, 30944905, 32062131, 32410525, 32706220, 34343150, 34815391, 35325485
Heart Failure	Associate	16467215, 21789513, 32942234, 35470109, 39523938
Heart Failure	Stimulate	34352074
Hodgkin Disease	Stimulate	32372669
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	39523938
Idiopathic Pulmonary Fibrosis	Associate	26669357, 29066090, 31324189, 31339356, 32551799, 33076992, 34515605, 35816432
Inflammation	Associate	32005173
Insulin Resistance	Associate	22132232
Intracranial Arteriovenous Malformations	Associate	32281240
Isolated Noncompaction of the Ventricular Myocardium	Associate	21789513, 33478057
Keratoderma Palmoplantar	Associate	10594734, 11841538, 12373648, 16698823, 21789513, 35325485, 35445468
Keratosis palmoplantaris striata 1	Associate	10594734, 11841538, 11982762, 19157795
LEOPARD Syndrome	Associate	26604139
Low Tension Glaucoma	Associate	35075201
Lymphoma	Associate	24260260
Lymphoma B Cell Marginal Zone	Associate	26850880
Metabolic Syndrome	Associate	26073755
Microscopic Polyangiitis	Associate	33076992
Myocarditis	Associate	32410525, 36768812
Naxos disease	Associate	16175511, 16698823, 22949226, 34343150, 35210635
Neoplasm Metastasis	Associate	25295583, 34455760, 35003328
Neoplasms	Associate	16489176, 24260260, 33106375, 34455760
Neoplastic Syndromes Hereditary	Associate	34343150
Neuroectodermal Tumors Primitive	Associate	15920547
Neurologic Manifestations	Associate	35445468
Non alcoholic Fatty Liver Disease	Associate	22132232
Noncompaction of Left Ventricular Myocardium Familial Isolated Autosomal Dominant 1	Associate	34343150
Osteoarthritis	Associate	23546957
Ovarian Neoplasms	Associate	7527220
Paroxysmal ventricular fibrillation	Associate	37949661
Pathological Conditions Anatomical	Associate	11841538
Pemphigus	Associate	25010392
Polycythemia Vera	Associate	35819174
Post Acute COVID 19 Syndrome	Associate	40076669
Primary Ovarian Insufficiency	Associate	25084053
Pulmonary Arterial Hypertension	Associate	40483843
Pulmonary Disease Chronic Obstructive	Associate	31324189, 35857525, 36698131, 36780661
Pulmonary Fibrosis	Associate	28166215
Sarcoma Ewing	Associate	15920547
Sarcoma Synovial	Associate	1704194
Scleroderma Systemic	Associate	26792595
Sick Sinus Syndrome	Associate	32062131
Skin Abnormalities	Associate	19924139, 30944905
Skin Diseases	Associate	12875771, 34343150
Slow Virus Diseases	Associate	32706220
Status Asthmaticus	Associate	31889146
Sudden Unexpected Death in Epilepsy	Associate	27135274
Syncope	Associate	37143080
Syndrome	Associate	35325485
Tachycardia Ventricular	Associate	38206261, 39551029
Tricuspid Valve Insufficiency	Associate	31770195
Varicose Veins	Associate	15744037
Vascular Remodeling	Associate	32706220
Vasculitis	Associate	33076992
Vasculitis Leukocytoclastic Cutaneous	Associate	37143080
Vasospasm Intracranial	Associate	36631170
Ventricular Dysfunction Left	Associate	16698823, 32005173, 32372669, 35470109, 35819174, 36768812
Ventricular Dysfunction Right	Associate	35470109
Ventricular Fibrillation	Associate	31484862, 36631170
Ventricular Premature Complexes	Associate	35445468
Woolly hair congenital	Associate	11841538, 16175511