DisGeNET - a database of gene-disease associations

List of associated variants

Craniofacial dysostosis type 1, C2931196

Source: ALL

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
rs121918505	FGFR2	0.851	0.080	10	121520119	missense variant	A/G	snv			5
rs1057519043	FGFR2	0.851	0.120	10	121517391	missense variant	C/A;G;T	snv			4
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
rs1057519038	FGFR2	0.882	0.120	10	121520076	missense variant	T/C	snv			3
rs121918492	FGFR2	0.882	0.080	10	121517372	missense variant	G/C	snv		7.0E-06	3
rs121918507	FGFR2	0.882	0.280	10	121498591	missense variant	T/C	snv			3
rs974173968	FGFR2	0.882	0.080	10	121551382	missense variant	G/A;T	snv	8.0E-06		3
rs1285894726	TGM2	0.882	0.120	20	38141329	missense variant	T/C	snv			3
rs1057519036	FGFR2	0.925	0.080	10	121520092	missense variant	A/C	snv			2
rs121918495	FGFR2	0.925	0.080	10	121517382	missense variant	T/G	snv			2
rs1265366960	FGFR2	0.925	0.080	10	121503857	missense variant	G/C	snv		7.0E-06	2
rs1354205157	FGFR2	0.925	0.080	10	121565633	missense variant	G/A	snv	4.0E-06	7.0E-06	2
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
rs780497781	FGFR2	0.925	0.080	10	121479954	missense variant	C/T	snv	2.4E-05	2.8E-05	2
rs879253721	FGFR2	0.925	0.080	10	121517316	splice region variant	T/C	snv			2
rs1554080460	TCOF1	0.925	0.120	5	150396468	frameshift variant	-/G	delins			2
rs1057519039	FGFR2	1.000	0.080	10	121520049	missense variant	C/G	snv			1
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
rs121918489	FGFR2	1.000	0.080	10	121517385	missense variant	A/G	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