DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Malignant tumor of colon ×

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
rs1114167806	MSH2	0.827	0.200	2	47463096	stop gained	ATGA/-;ATGAATGA	delins			7
rs587779157	MSH2	0.827	0.240	2	47408486	inframe deletion	GAAGTT/-	delins			6
rs63751207	MSH2	0.851	0.240	2	47466718	missense variant	G/A;C;T	snv	8.0E-06		6
rs1553368590	MSH2	0.882	0.200	2	47475097	missense variant	T/A	snv			3
rs730881756	MSH2	0.925	0.080	2	47445653	missense variant	A/C;G	snv	4.0E-06		2
rs869312768	MSH2	0.925	0.160	2	47429865	frameshift variant	-/TT	delins			2