DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Colon Carcinoma ×

Variants associated to the Gene: PMS2 ×

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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
rs1450081432	PMS2	0.851	0.120	7	5987230	missense variant	C/T	snv	4.0E-06		4
rs1060503118	PMS2	0.925	0.080	7	5987422	missense variant	C/T	snv			2
rs587782513	PMS2	0.925	0.080	7	5992023	missense variant	T/C;G	snv	4.0E-06		2
rs762100304	PMS2	0.925	0.080	7	5987005	missense variant	C/A;T	snv			2