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
rs1265366960	FGFR2	0.925	0.080	10	121503857	missense variant	G/C	snv		7.0E-06	2
rs1554080460	TCOF1	0.925	0.120	5	150396468	frameshift variant	-/G	delins			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
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
rs387906676	FGFR2	1.000	0.080	10	121517394	missense variant	C/G;T	snv			1
rs374608214	FGFR2	0.742	0.160	10	121520010	missense variant	G/C	snv	4.0E-06	7.0E-06	13
rs1354205157	FGFR2	0.925	0.080	10	121565633	missense variant	G/A	snv	4.0E-06	7.0E-06	2
rs121918491	FGFR2	0.716	0.440	10	121517371	synonymous variant	C/T	snv	4.0E-06		15
rs776587763	FGFR2	0.790	0.120	10	121520085	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		7
rs1490997619	FGFR2	0.925	0.080	10	121488065	missense variant	T/C	snv	4.0E-06		2
rs1434545235	FGFR2	0.752	0.440	10	121565500	missense variant	T/C	snv	4.0E-06		11
rs777169135	FGFR2	0.851	0.080	10	121488064	missense variant	T/C;G	snv	4.0E-06		4
rs779326224	FGFR2	1.000	0.080	10	121520130	missense variant	G/A	snv	4.0E-06	7.0E-06	1
rs79184941	FGFR2	0.617	0.600	10	121520163	missense variant	G/A;C	snv	5.6E-05; 4.0E-06		41
rs121909627	FGFR1	0.776	0.200	8	38424690	missense variant	G/C	snv	4.0E-06		8
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		49
rs974173968	FGFR2	0.882	0.080	10	121551382	missense variant	G/A;T	snv	8.0E-06		3
rs746082633	FGFR1	0.827	0.280	8	38418270	missense variant	T/C	snv	1.6E-05	1.4E-05	5