DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cardiomyopathies ×

Variants associated to the Gene: MYH7 ×

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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
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
rs727503246	MIR208B ; MYH7	0.882	0.080	14	23418313	missense variant	C/T	snv		7.0E-06	4
rs148808089	MYH7	0.882	0.080	14	23429038	missense variant	G/A	snv	2.0E-05	1.4E-05	4
rs397516165	MYH7	0.925	0.080	14	23424118	missense variant	C/G;T	snv			4
rs397516269	MYH7	0.882	0.080	14	23431426	missense variant	A/G	snv	4.0E-06		4
rs45544633	MHRT ; MYH7	1.000	0.080	14	23417174	missense variant	G/A	snv			3
rs397516088	MYH7	0.882	0.080	14	23429850	missense variant	C/G;T	snv			3
rs397516142	MYH7	1.000	0.080	14	23425357	missense variant	C/A;G;T	snv	8.0E-06; 1.6E-05		3
rs397516260	MYH7	0.882	0.080	14	23431789	missense variant	C/A;T	snv	1.6E-05		3
rs45516091	MYH7			14	23431608	missense variant	G/A	snv	1.2E-05	7.0E-06	2
rs727503249	MIR208B ; MYH7	1.000	0.040	14	23419588	missense variant	G/A;C	snv			1
rs141735183	MYH7			14	23420222	stop gained	C/A	snv	8.2E-06	7.0E-06	1
rs727504273	MYH7	0.925	0.080	14	23431781	missense variant	T/G	snv		7.0E-06	1
rs730880895	MYH7			14	23425373	missense variant	C/T	snv			1
rs730880903	MYH7			14	23422268	missense variant	G/A	snv			1