DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Endometrial Carcinoma ×

Variants associated to the Gene: FGFR2 ×

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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
rs79184941	FGFR2	0.617	0.600	10	121520163	missense variant	G/A;C	snv	5.6E-05; 4.0E-06		41
rs121913478	FGFR2	0.708	0.640	10	121515280	missense variant	T/C	snv			17
rs1219648	FGFR2	0.716	0.320	10	121586676	intron variant	A/G;T	snv			17
rs121918497	FGFR2	0.776	0.160	10	121520052	missense variant	T/G	snv			8
rs1057519854	FGFR2	0.882	0.080	10	121488063	missense variant	A/T	snv			7
rs121913476	FGFR2	0.851	0.080	10	121498520	missense variant	A/C;T	snv			7
rs1438956733	FGFR2	0.925	0.080	10	121515180	synonymous variant	G/A	snv		7.0E-06	2
rs55745510	FGFR2	0.925	0.080	10	121520039	synonymous variant	G/A	snv	7.6E-05	2.1E-05	2