DisGeNET - a database of gene-disease associations

List of associated variants

Pulmonary Valve Insufficiency, C0034088

Source: ALL

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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
rs149989682	ABCA3	0.790	0.240	16	2317763	missense variant	T/A;C	snv	2.3E-03		10
rs63751422	PMS2	0.882	0.280	7	5986838	stop gained	G/A	snv	4.0E-06	7.0E-06	7