DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Malignant neoplasm of breast ×

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
rs3020314	ESR1	0.790	0.280	6	151949537	intron variant	C/G;T	snv			7
rs2881766	ESR1	0.882	0.120	6	151797984	intron variant	T/G	snv		0.35	5
rs9383938	ESR1	0.827	0.160	6	151666222	intron variant	G/T	snv		0.11	5
rs1062577	ESR1	0.882	0.080	6	152102770	3 prime UTR variant	T/A;G	snv			4
rs2144025	ESR1	0.925	0.080	6	151986571	intron variant	T/A;C	snv			4
rs3798758	ESR1	0.925	0.080	6	152100719	3 prime UTR variant	C/A	snv		7.4E-02	3
rs10484919	ESR1	0.925	0.080	6	151653287	upstream gene variant	C/T	snv		0.16	2
rs12525163	ESR1	0.925	0.080	6	151719156	intron variant	T/C	snv		0.27	2
rs1459132456	SYNE1 ; ESR1	0.925	0.080	6	152125331	missense variant	T/C	snv			2
rs2747648	ESR1	0.925	0.080	6	152101200	3 prime UTR variant	C/T	snv		0.98	2
rs3003925	ESR1	0.925	0.080	6	151963323	intron variant	G/A	snv		0.80	2
rs3778609	ESR1	0.925	0.080	6	151812052	intron variant	C/T	snv		0.13	2
rs523736	ESR1	0.925	0.080	6	151802760	intron variant	G/A	snv		0.62	2
rs7766585	ESR1	0.925	0.080	6	152074901	intron variant	T/A;G	snv			2
rs926778	ESR1	0.925	0.080	6	152034647	intron variant	C/A	snv		0.40	2
rs9479118	ESR1	0.925	0.080	6	151797989	intron variant	T/C	snv		1.6E-02	2