DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Endometrial Carcinoma ×

Variants associated to the Gene: MLH1 ×

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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
rs28930073	MLH1	0.827	0.200	3	37007004	missense variant	G/C	snv	2.1E-04	1.9E-04	5
rs55907433	MLH1	0.925	0.120	3	37048583	missense variant	A/G;T	snv	1.1E-03; 4.0E-06		2