DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Colon Carcinoma ×

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
rs63750875	MSH2	0.742	0.280	2	47475171	missense variant	G/A;C	snv	1.6E-05		15
rs4987188	MSH2	0.790	0.200	2	47416318	missense variant	G/A;T	snv	1.3E-02; 2.0E-05		11
rs730881756	MSH2	0.925	0.080	2	47445653	missense variant	A/C;G	snv	4.0E-06		2