DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Malignant Uterine Corpus Neoplasm ×

Variants associated to the Gene: POLE ×

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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
rs1057519943	POLE	0.790	0.160	12	132676598	missense variant	G/C;T	snv			5
rs1057519944	POLE	0.882	0.160	12	132676599	missense variant	G/A	snv			5
rs1057519945	POLE	0.776	0.200	12	132673703	missense variant	C/A;T	snv			4