DisGeNET - a database of gene-disease associations

List of associated variants

Hypertrophic Cardiomyopathy, C0007194

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs915012109	SMYD1	0.925	0.040	2	88096710	missense variant	T/C	snv	4.0E-06	7.0E-06	3
rs1060501436	MYH7	0.925	0.040	14	23424815	missense variant	A/G	snv			2
rs1064793206	MYH7	0.925	0.040	14	23424993	missense variant	G/A	snv			2
rs116840799	CAV3 ; SSUH2	1.000	0.040	3	8745599	missense variant	C/G	snv			2
rs1199713333	CACNA1C	0.925	0.040	12	2593318	missense variant	C/T	snv	4.0E-06		2
rs121917760	TNNI3	0.925	0.040	19	55154148	missense variant	A/G;T	snv			2
rs1316189390	HCN4 ; LOC105370890	1.000	0.040	15	73343594	missense variant	T/C	snv	4.0E-06		2
rs140126678	MYOZ2	0.925	0.040	4	119186143	missense variant	A/G	snv	2.1E-03	2.1E-03	2
rs1403543	AGTR2	1.000	0.040	X	116170939	intron variant	G/A	snv		0.48	2
rs148395034	TRIM63	0.925	0.040	1	26058482	stop gained	G/A;C	snv	7.0E-04; 5.6E-05		2
rs1489940065	MYH7	0.925	0.040	14	23433188	missense variant	G/A	snv	2.8E-05	7.7E-05	2
rs193922697	PRKAG2	1.000	0.040	7	151576438	missense variant	G/A;T	snv	1.6E-05		2
rs199476305	TPM1	1.000	0.040	15	63044096	missense variant	G/C	snv			2
rs199476322	TPM1	0.925	0.040	15	63064141	missense variant	A/G	snv		7.0E-06	2
rs199476398	MYOZ2 ; LOC105379404	0.925	0.040	4	119150937	missense variant	T/C	snv			2
rs200631005	ACTN2	0.925	0.040	1	236751561	missense variant	A/C;G	snv	2.4E-05; 1.1E-03		2
rs367947846	MYBPC3	1.000	0.040	11	47346298	stop gained	G/A;C	snv	7.7E-05		2
rs3729843	TNNT2	0.925	0.040	1	201367856	intron variant	C/A;G;T	snv	1.8E-04; 0.42		2
rs376344575	NDUFAF1	0.925	0.040	15	41394885	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 4.8E-05		2
rs376477806	LOC105369937 ; MYBPC1	0.925	0.040	12	101648107	missense variant	G/A	snv	8.0E-06		2
rs387906898	JPH2	0.925	0.040	20	44160293	missense variant	G/A	snv			2
rs387906958	NDUFAF1	0.925	0.040	15	41394987	missense variant	G/A	snv	3.2E-05	4.2E-05	2
rs397515925	MYBPC3	0.925	0.040	11	47351344	frameshift variant	TGCCCTCTGTG/-	delins		7.0E-06	2
rs397515947	MYBPC3	1.000	0.040	11	47339376	frameshift variant	G/-	delins			2
rs397516153	MYH7	0.925	0.040	14	23424935	missense variant	G/A;T	snv			2