DisGeNET - a database of gene-disease associations

Source: CLINVAR

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
rs796065354	ESR1	0.882	0.080	6	151944320	missense variant	A/G	snv			1
rs1057519717	ESR1			6	152098785	missense variant	T/G	snv			1
rs1057519827	ESR1			6	152011697	missense variant	G/C	snv			1
rs1057519714	ESR1			6	152094402	missense variant	T/C	snv			1
rs1057519715	ESR1	1.000	0.080	6	152098779	missense variant	T/A	snv			1
rs1057519716	ESR1			6	152098782	missense variant	C/A	snv			1
rs1562787582	ESR1	1.000		6	152099207	3 prime UTR variant	T/A	snv			1
rs397509428	ESR1	1.000		6	152011684	missense variant	G/T	snv			1
rs1131692059	ESR1	1.000		6	152011740	missense variant	G/A	snv			1
rs104893956	ESR1	1.000		6	151842613	stop gained	C/T	snv			1
rs121913043	ESR1			6	152061094	missense variant	TG/GC	mnv			1