DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Hypertrophic Cardiomyopathy ×

Variants associated to the Gene: PRKAG2 ×

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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
rs121908987	PRKAG2	0.742	0.200	7	151576412	missense variant	C/A;G;T	snv	4.0E-06		6
rs121908991	PRKAG2	0.807	0.120	7	151560610	missense variant	C/A;T	snv			2
rs193922697	PRKAG2	1.000	0.040	7	151576438	missense variant	G/A;T	snv	1.6E-05		2
rs267606978	PRKAG2	0.925	0.080	7	151564146	missense variant	C/G	snv			2
rs28938173	PRKAG2	0.925	0.080	7	151568750	missense variant	G/T	snv			2
rs121908989	PRKAG2	0.882	0.080	7	151564199	missense variant	T/A;C	snv	4.0E-06		1
rs1563161306	PRKAG2	1.000	0.040	7	151572693	missense variant	A/G	snv			1
rs267606979	PRKAG2	0.882	0.080	7	151560560	missense variant	A/G	snv			1
rs397517283	PRKAG2	1.000	0.040	7	151574929	missense variant	A/C;T	snv			1
rs727504392	PRKAG2	1.000	0.040	7	151572685	missense variant	G/A	snv			1