DisGeNET - a database of gene-disease associations

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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
rs77543610	FGFR2	0.667	0.560	10	121520160	missense variant	G/C	snv			28
rs121918487	FGFR2	0.716	0.440	10	121517378	missense variant	C/A;G;T	snv			25
rs121918494	FGFR2	0.790	0.160	10	121517363	missense variant	G/C	snv			25
rs121913478	FGFR2	0.708	0.640	10	121515280	missense variant	T/C	snv			17
rs121918491	FGFR2	0.716	0.440	10	121517371	synonymous variant	C/T	snv	4.0E-06		15
rs1554927408	FGFR2	0.742	0.480	10	121515254	missense variant	C/T	snv			12
rs1057519044	FGFR2	0.752	0.440	10	121517390	missense variant	C/T	snv			11
rs1434545235	FGFR2	0.752	0.440	10	121565500	missense variant	T/C	snv	4.0E-06		11
rs121909641	FGFR1	0.763	0.520	8	38419720	missense variant	G/A	snv			9
rs121909627	FGFR1	0.776	0.200	8	38424690	missense variant	G/C	snv	4.0E-06		8
rs121918497	FGFR2	0.776	0.160	10	121520052	missense variant	T/G	snv			8
rs121918488	FGFR2	0.790	0.120	10	121517379	missense variant	A/C;G;T	snv			7
rs776587763	FGFR2	0.790	0.120	10	121520085	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		7
rs121918490	FGFR2	0.851	0.080	10	121517342	missense variant	G/C	snv			6
rs121918501	FGFR2	0.807	0.080	10	121520050	missense variant	A/C;G	snv			6
rs121918496	FGFR2	0.851	0.120	10	121517377	missense variant	G/C	snv			4
rs777169135	FGFR2	0.851	0.080	10	121488064	missense variant	T/C;G	snv	4.0E-06		4
rs121918492	FGFR2	0.882	0.080	10	121517372	missense variant	G/C	snv		7.0E-06	3
rs747976513	FGFR1	1.000	0.080	8	38418351	missense variant	G/C	snv	5.6E-05	4.2E-05	1