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
rs121908987	PRKAG2	0.742	0.200	7	151576412	missense variant	C/A;G;T	snv	4.0E-06		6
rs397516248	MYH7 ; MHRT	0.851	0.200	14	23415153	missense variant	C/T	snv			5
rs727505017	RAF1	0.882	0.200	3	12604201	missense variant	A/G;T	snv			3
rs121434467	ND1 ; ND2 ; COX1 ; TRNI	0.925	0.200	MT	4295	non coding transcript exon variant	A/G	snv			2
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
rs121434594	RAF1	0.827	0.160	3	12604189	missense variant	G/A;C;T	snv			5
rs267607490	DES	0.925	0.160	2	219425734	missense variant	C/T	snv			4
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	3
rs104894828	RPL36A-HNRNPH2 ; GLA	0.882	0.160	X	101398467	missense variant	C/A;T	snv			3
rs121913647	MHRT ; MYH7	0.925	0.160	14	23417173	missense variant	C/A;G;T	snv	1.6E-05		3
rs104894845	GLA ; RPL36A-HNRNPH2	0.807	0.160	X	101401752	missense variant	C/G;T	snv	5.5E-04		2
rs193922649	LAMP2	0.925	0.160	X	120449063	frameshift variant	T/-	del			2
rs397516220	MYH7 ; MHRT	0.925	0.160	14	23416988	splice acceptor variant	CTC/-	delins			2
rs869025431	FHL1	0.925	0.160	X	136209946	missense variant	G/A;C	snv		9.6E-06	2
rs587782958	MYBPC3	0.790	0.120	11	47333552	splice region variant	C/T	snv	1.7E-05		10
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