DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Colorectal 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
rs1114167806	MSH2	0.827	0.200	2	47463096	stop gained	ATGA/-;ATGAATGA	delins			7
rs63751108	MSH2	0.827	0.240	2	47429881	stop gained	C/T	snv			7
rs63750875	MSH2	0.742	0.280	2	47475171	missense variant	G/A;C	snv	1.6E-05		6
rs17224367	MSH2	0.882	0.160	2	47429833	missense variant	C/G;T	snv	1.5E-03		2
rs63750006	MSH2	0.882	0.160	2	47429920	stop gained	C/A;G;T	snv	5.5E-04; 4.0E-06		2
rs63750492	MSH2	0.925	0.160	2	47466663	missense variant	G/T	snv			2
rs63750716	MSH2	0.925	0.160	2	47410232	missense variant	A/G	snv	4.7E-04	1.3E-04	2
rs1114167857	MSH2	1.000	0.080	2	47476442	missense variant	T/C	snv			1
rs17217772	MSH2	0.790	0.240	2	47410107	missense variant	A/C;G;T	snv	5.8E-03		1
rs587779973	MSH2	1.000	0.080	2	47410334	missense variant	G/A	snv	1.6E-05	3.5E-05	1
rs63749879	MSH2	1.000	0.080	2	47416377	missense variant	G/A	snv			1
rs63749907	MSH2	1.000	0.080	2	47403229	missense variant	G/A;T	snv	1.4E-05		1
rs63749982	MSH2	1.000	0.080	2	47475121	missense variant	A/G	snv	4.0E-06		1
rs63749984	MSH2	0.925	0.160	2	47410340	stop gained	G/C;T	snv	1.6E-05		1
rs63751260	MSH2	1.000	0.080	2	47403309	missense variant	G/A	snv	8.8E-06		1