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
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
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
rs200960801	ESR1	0.827	0.200	6	151944488	missense variant	A/G	snv	4.0E-06		6
rs1462893414	ESR1	0.882	0.080	6	151944323	missense variant	A/G	snv	4.0E-06	7.0E-06	5
rs761843408	SYNE1 ; ESR1	0.925	0.080	6	152125285	synonymous variant	A/G	snv	3.4E-05	2.8E-05	2
rs3798758	ESR1	0.925	0.080	6	152100719	3 prime UTR variant	C/A	snv		7.4E-02	3
rs926778	ESR1	0.925	0.080	6	152034647	intron variant	C/A	snv		0.40	2
rs1455751791	ESR1	0.882	0.120	6	152011735	synonymous variant	C/G	snv	4.0E-06		3
rs3020314	ESR1	0.790	0.280	6	151949537	intron variant	C/G;T	snv			7
rs767863538	ESR1	0.925	0.080	6	151808207	missense variant	C/G;T	snv	5.6E-06; 5.6E-06		3
rs747099645	ESR1	0.882	0.120	6	152061061	missense variant	C/T	snv	1.6E-05	2.8E-05	3
rs10484919	ESR1	0.925	0.080	6	151653287	upstream gene variant	C/T	snv		0.16	2
rs201145204	ESR1	0.925	0.080	6	151808318	missense variant	C/T	snv	2.4E-04	1.0E-03	2
rs2747648	ESR1	0.925	0.080	6	152101200	3 prime UTR variant	C/T	snv		0.98	2
rs3778609	ESR1	0.925	0.080	6	151812052	intron variant	C/T	snv		0.13	2
rs139960913	ESR1	1.000	0.080	6	151807928	missense variant	C/T	snv	3.3E-03	3.1E-03	1
rs2228480	ESR1	0.724	0.360	6	152098960	synonymous variant	G/A	snv	0.19	0.18	16
rs757200716	ESR1	0.851	0.160	6	151842617	missense variant	G/A	snv	8.0E-06		5
rs1207112399	ESR1	0.925	0.080	6	151842614	missense variant	G/A	snv	4.0E-06	7.0E-06	3
rs3003925	ESR1	0.925	0.080	6	151963323	intron variant	G/A	snv		0.80	2
rs523736	ESR1	0.925	0.080	6	151802760	intron variant	G/A	snv		0.62	2
rs188957694	ESR1	0.882	0.080	6	151944218	missense variant	G/A;C	snv	4.0E-05	4.9E-05	6
rs746432	ESR1	0.851	0.120	6	151808173	synonymous variant	G/A;C	snv	6.6E-02	7.0E-02	4
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22