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
rs10484919	ESR1	0.925	0.080	6	151653287	upstream gene variant	C/T	snv		0.16	2
rs9383938	ESR1	0.827	0.160	6	151666222	intron variant	G/T	snv		0.11	5
rs12525163	ESR1	0.925	0.080	6	151719156	intron variant	T/C	snv		0.27	2
rs2881766	ESR1	0.882	0.120	6	151797984	intron variant	T/G	snv		0.35	5
rs9479118	ESR1	0.925	0.080	6	151797989	intron variant	T/C	snv		1.6E-02	2
rs523736	ESR1	0.925	0.080	6	151802760	intron variant	G/A	snv		0.62	2
rs139960913	ESR1	1.000	0.080	6	151807928	missense variant	C/T	snv	3.3E-03	3.1E-03	1
rs2077647	ESR1	0.732	0.320	6	151807942	synonymous variant	T/A;C	snv	8.1E-06; 0.46		16
rs760503206	ESR1	0.925	0.080	6	151807956	missense variant	T/C	snv	4.0E-06		2
rs746432	ESR1	0.851	0.120	6	151808173	synonymous variant	G/A;C	snv	6.6E-02	7.0E-02	4
rs767863538	ESR1	0.925	0.080	6	151808207	missense variant	C/G;T	snv	5.6E-06; 5.6E-06		3
rs200075329	ESR1	0.925	0.080	6	151808264	missense variant	T/C	snv	4.4E-03	4.3E-03	4
rs201145204	ESR1	0.925	0.080	6	151808318	missense variant	C/T	snv	2.4E-04	1.0E-03	2
rs3778609	ESR1	0.925	0.080	6	151812052	intron variant	C/T	snv		0.13	2
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
rs1207112399	ESR1	0.925	0.080	6	151842614	missense variant	G/A	snv	4.0E-06	7.0E-06	3
rs757200716	ESR1	0.851	0.160	6	151842617	missense variant	G/A	snv	8.0E-06		5
rs188957694	ESR1	0.882	0.080	6	151944218	missense variant	G/A;C	snv	4.0E-05	4.9E-05	6
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
rs762292600	ESR1	0.925	0.080	6	151944316	missense variant	A/G	snv	4.0E-06	1.4E-05	7
rs796065354	ESR1	0.882	0.080	6	151944320	missense variant	A/G	snv			9
rs1462893414	ESR1	0.882	0.080	6	151944323	missense variant	A/G	snv	4.0E-06	7.0E-06	5
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22