DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Malignant Neoplasms ×

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
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs2077647	ESR1	0.732	0.320	6	151807942	synonymous variant	T/A;C	snv	8.1E-06; 0.46		16
rs2228480	ESR1	0.724	0.360	6	152098960	synonymous variant	G/A	snv	0.19	0.18	16
rs796065354	ESR1	0.882	0.080	6	151944320	missense variant	A/G	snv			9
rs762292600	ESR1	0.925	0.080	6	151944316	missense variant	A/G	snv	4.0E-06	1.4E-05	7
rs149308960	ESR1	0.925	0.080	6	151842622	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06; 1.6E-03		4
rs200075329	ESR1	0.925	0.080	6	151808264	missense variant	T/C	snv	4.4E-03	4.3E-03	4
rs772596249	ESR1			6	151842724	missense variant	G/A	snv	4.0E-06		2