DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Malignant neoplasm of breast ×

Variants associated to the Gene: ESR2 ×

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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
rs4986938	ESR2	0.641	0.600	14	64233098	3 prime UTR variant	C/T	snv	0.31	0.33	35
rs1256049	ESR2	0.645	0.560	14	64257333	synonymous variant	C/T	snv	6.7E-02	6.3E-02	32
rs1271572	ESR2	0.708	0.400	14	64295199	intron variant	A/C;T	snv			16
rs3020449	ESR2	0.807	0.200	14	64306674	intron variant	A/G;T	snv			10
rs928554	ESR2	0.851	0.120	14	64227477	3 prime UTR variant	C/T	snv		0.66	6
rs1256054	ESR2	0.882	0.120	14	64249595	synonymous variant	G/C	snv	2.8E-03	9.6E-04	3
rs2987983	ESR2	0.882	0.080	14	64296935	intron variant	A/G	snv		0.40	3
rs1887994	ESR2	0.925	0.080	14	64293893	intron variant	C/A	snv		7.6E-02	2