DisGeNET - a database of gene-disease associations

List of associated variants

Cardiomyopathy, Hypertrophic, Familial, C0949658

Source: CLINVAR ×

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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
rs3218716	MYH7	0.716	0.280	14	23425316	missense variant	C/A;G;T	snv	4.0E-06; 2.4E-05		17
rs587782958	MYBPC3	0.790	0.120	11	47333552	splice region variant	C/T	snv	1.7E-05		10
rs121913628	MYH7	0.763	0.160	14	23424059	missense variant	C/G;T	snv			10
rs3218713	MYH7	0.763	0.160	14	23431468	missense variant	C/A;T	snv			10
rs267606908	MYH7	0.763	0.160	14	23424112	missense variant	T/C	snv	4.0E-06	7.0E-06	9
rs3218714	MYH7	0.763	0.160	14	23429279	missense variant	G/A;C	snv			9
rs371898076	MYH7	0.763	0.160	14	23426833	missense variant	C/T	snv	8.0E-06	4.9E-05	9
rs397516127	MYH7	0.763	0.160	14	23426834	missense variant	G/A;C	snv			9
rs397516171	MYH7	0.763	0.160	14	23424041	missense variant	C/G;T	snv			9
rs397516264	MYH7	0.763	0.160	14	23431602	missense variant	C/T	snv	4.0E-06		9
rs193922680	ACTC1 ; LOC101928174	0.790	0.080	15	34793398	missense variant	C/T	snv	4.0E-06	7.0E-06	7
rs397516354	TNNI3	0.790	0.120	19	55154094	missense variant	C/A;G;T	snv	4.0E-05		7
rs121909374	MYBPC3	0.790	0.120	11	47342578	stop gained	C/A;G	snv	1.3E-05		6
rs121908987	PRKAG2	0.742	0.200	7	151576412	missense variant	C/A;G;T	snv	4.0E-06		6
rs397516349	TNNI3	0.807	0.080	19	55154145	missense variant	C/T	snv	1.6E-05		6
rs727503504	TNNI3	0.807	0.080	19	55154071	missense variant	G/A;C	snv			6
rs36211723	MYBPC3	0.851	0.080	11	47338520	missense variant	C/G;T	snv	1.6E-05		5
rs397516042	MYBPC3	0.827	0.120	11	47332075	stop gained	G/A	snv	8.1E-06	7.0E-06	5
rs397516059	MYBPC3	0.851	0.080	11	47349876	frameshift variant	-/A	delins	8.2E-06		5
rs727503166	MYBPC3	0.851	0.080	11	47332110	frameshift variant	T/-	del			5
rs727503204	MYBPC3	0.882	0.080	11	47343020	splice donor variant	C/G;T	snv			5
rs267606910	MYH7	0.807	0.080	14	23431589	missense variant	C/T	snv	8.0E-06		5
rs397516248	MYH7 ; MHRT	0.851	0.200	14	23415153	missense variant	C/T	snv			5
rs121434594	RAF1	0.827	0.160	3	12604189	missense variant	G/A;C;T	snv			5
rs397516456	TNNT2	0.827	0.080	1	201365298	missense variant	G/A	snv	4.0E-06	1.4E-05	5