DisGeNET - a database of gene-disease associations

List of associated variants

Pfeiffer Syndrome, C0220658

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
rs1057519041	FGFR2	0.925	0.160	10	121517465	splice acceptor variant	T/C	snv			2
rs121918495	FGFR2	0.925	0.080	10	121517382	missense variant	T/G	snv			2
rs121918499	FGFR2	0.925	0.160	10	121520048	missense variant	C/A;G	snv			2
rs879253721	FGFR2	0.925	0.080	10	121517316	splice region variant	T/C	snv			2
rs1057519047	FGFR2	1.000	0.080	10	121488055	missense variant	T/C;G	snv			1
rs121918503	FGFR2	1.000	0.080	10	121520098	inframe deletion	GTC/-	delins			1
rs121918510	FGFR2	1.000	0.080	10	121517441	missense variant	T/G	snv			1
rs1358919643	FGFR2	1.000	0.080	10	121517463	missense variant	C/A;T	snv	4.0E-06		1
rs1554928884	FGFR2	1.000	0.080	10	121517384	missense variant	T/C	snv			1
rs879253719	FGFR2	1.000	0.080	10	121517464	splice acceptor variant	C/T	snv			1
rs886037837	FGFR2	1.000	0.080	10	121520037	inframe deletion	CGTGCTTGATCCACTGGA/-	delins			1