DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Malignant neoplasm of stomach ×

Variants associated to the Gene: MSH2 ×

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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
rs63750623	MSH2	0.925	0.160	2	47480707	stop gained	C/G;T	snv			4
rs63750709	MSH2	0.925	0.160	2	47480846	missense variant	C/G;T	snv	4.0E-06		1
rs63750795	MSH2	1.000	0.080	2	47480854	missense variant	T/G	snv			1
rs63750966	MSH2	1.000	0.080	2	47403240	missense variant	G/A;C;T	snv			1
rs63751400	MSH2	1.000	0.080	2	47480839	missense variant	C/G;T	snv	4.0E-06		1