DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Colorectal Carcinoma ×

Variants associated to the Gene: ESR2 ×

Results per page

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
rs1255998	ESR2	0.827	0.200	14	64227153	3 prime UTR variant	G/C;T	snv			6
rs2978381	ESR2	0.925	0.160	14	64299934	intron variant	T/C	snv		0.53	3