DisGeNET - a database of gene-disease associations

List of associated variants

Craniofacial dysostosis type 1, C2931196

Source: ALL

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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
rs121918494	FGFR2	0.790	0.160	10	121517363	missense variant	G/C	snv			25
rs374608214	FGFR2	0.742	0.160	10	121520010	missense variant	G/C	snv	4.0E-06	7.0E-06	13
rs121918502	FGFR2	0.790	0.160	10	121517351	missense variant	G/C	snv			9
rs121909627	FGFR1	0.776	0.200	8	38424690	missense variant	G/C	snv	4.0E-06		8
rs121918490	FGFR2	0.851	0.080	10	121517342	missense variant	G/C	snv			6
rs121918496	FGFR2	0.851	0.120	10	121517377	missense variant	G/C	snv			4
rs121918492	FGFR2	0.882	0.080	10	121517372	missense variant	G/C	snv		7.0E-06	3
rs1265366960	FGFR2	0.925	0.080	10	121503857	missense variant	G/C	snv		7.0E-06	2
rs121913478	FGFR2	0.708	0.640	10	121515280	missense variant	T/C	snv			17
rs1434545235	FGFR2	0.752	0.440	10	121565500	missense variant	T/C	snv	4.0E-06		11
rs121909631	FGFR1	0.827	0.280	8	38419696	missense variant	T/C	snv			5
rs746082633	FGFR1	0.827	0.280	8	38418270	missense variant	T/C	snv	1.6E-05	1.4E-05	5
rs1057519038	FGFR2	0.882	0.120	10	121520076	missense variant	T/C	snv			3
rs121918507	FGFR2	0.882	0.280	10	121498591	missense variant	T/C	snv			3
rs1285894726	TGM2	0.882	0.120	20	38141329	missense variant	T/C	snv			3
rs1490997619	FGFR2	0.925	0.080	10	121488065	missense variant	T/C	snv	4.0E-06		2
rs751047267	FGFR2	0.925	0.080	10	121496555	missense variant	T/C	snv		7.0E-06	2
rs879253721	FGFR2	0.925	0.080	10	121517316	splice region variant	T/C	snv			2
rs1057519040	FGFR2	1.000	0.080	10	121519995	missense variant	T/C	snv			1
rs1057519042	FGFR2	1.000	0.080	10	121517396	missense variant	T/C	snv			1
rs121918493	FGFR2	1.000	0.080	10	121517420	missense variant	T/C	snv			1
rs121918500	FGFR2	1.000	0.080	10	121520044	missense variant	T/C	snv			1
rs1554930684	FGFR2	1.000	0.080	10	121520016	missense variant	T/C	snv			1
rs777169135	FGFR2	0.851	0.080	10	121488064	missense variant	T/C;G	snv	4.0E-06		4
rs121918497	FGFR2	0.776	0.160	10	121520052	missense variant	T/G	snv			8