DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Restrictive cardiomyopathy ×

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
rs727503260	MYH7	0.851	0.080	14	23425403	missense variant	C/G;T	snv			4
rs727503269	MYH7	0.882	0.040	14	23429329	missense variant	T/C	snv			3
rs397516153	MYH7	0.925	0.040	14	23424935	missense variant	G/A;T	snv			2
rs727503244	MHRT ; MYH7 ; MIR208B	1.000	0.040	14	23417573	missense variant	A/G	snv	4.4E-05	5.6E-05	1