DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Carcinogenesis ×

Variants associated to the Gene: ESR1 ×

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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
rs762292600	ESR1	0.925	0.080	6	151944316	missense variant	A/G	snv	4.0E-06	1.4E-05	7
rs188957694	ESR1	0.882	0.080	6	151944218	missense variant	G/A;C	snv	4.0E-05	4.9E-05	6