DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Ovarian Carcinoma ×

Variants associated to the Gene: ESR2 ×

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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
rs1271572	ESR2	0.708	0.400	14	64295199	intron variant	A/C;T	snv			16
rs1256031	ESR2	0.790	0.200	14	64279461	intron variant	G/A;T	snv		0.57	8
rs1256030	ESR2	0.827	0.240	14	64280452	intron variant	A/G;T	snv			5