DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Neoplasm Metastasis ×

Variants associated to the Gene: ESR1 ×

Results per page

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
rs1364963022	ESR1	0.925	0.080	6	151944233	missense variant	G/C	snv	4.0E-06		4
rs200282497	ESR1	0.925	0.080	6	151944239	missense variant	G/C	snv	3.6E-05	3.5E-05	4
rs9397080	ESR1	1.000	0.040	6	152059380	intron variant	C/T	snv		0.22	2