DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: FGFR2 ×

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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 GENOME	Num. diseases
rs1057519797	FGFR2	1.000		10	121496705	missense variant	C/T	snv		1
rs1057519800	FGFR2	1.000		10	121498562	missense variant	C/A;G;T	snv		1
rs1057519798	FGFR2	1.000		10	121498528	missense variant	T/C	snv		1
rs1554930637	FGFR2	1.000	0.120	10	121519997	inframe deletion	AGCCCGTCGGGCCCGTATTTACTGCCGTTCTTTTCCACGTGCTTGATCCACTGGATGTGGGGC/-	delins		1
rs1057519038	FGFR2	0.882	0.120	10	121520076	missense variant	T/C	snv		1
rs1057519040	FGFR2	1.000	0.080	10	121519995	missense variant	T/C	snv		1
rs1057519039	FGFR2	1.000	0.080	10	121520049	missense variant	C/G	snv		1
rs121918501	FGFR2	0.807	0.080	10	121520050	missense variant	A/C;G	snv		1
rs121918493	FGFR2	1.000	0.080	10	121517420	missense variant	T/C	snv		1
rs1057519042	FGFR2	1.000	0.080	10	121517396	missense variant	T/C	snv		1
rs387906676	FGFR2	1.000	0.080	10	121517394	missense variant	C/G;T	snv		1
rs121918489	FGFR2	1.000	0.080	10	121517385	missense variant	A/G	snv		1
rs121918496	FGFR2	0.851	0.120	10	121517377	missense variant	G/C	snv		1
rs121918500	FGFR2	1.000	0.080	10	121520044	missense variant	T/C	snv		1
rs387906677	FGFR2	1.000		10	121515232	missense variant	A/C	snv		1
rs281865420	FGFR2			10	121520161	missense variant	GCG/AGA	mnv		1
rs1554928978	FGFR2	1.000		10	121517425	splice acceptor variant	CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/-	delins		2
rs1057519036	FGFR2	0.925	0.080	10	121520092	missense variant	A/C	snv		2
rs121913477	FGFR2	1.000	0.120	10	121515289	missense variant	G/C;T	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
rs1057519037	FGFR2	0.925	0.120	10	121520084	missense variant	GC/AA;TA	mnv		2
rs1057519041	FGFR2	0.925	0.160	10	121517465	splice acceptor variant	T/C	snv		2
rs121918492	FGFR2	0.882	0.080	10	121517372	missense variant	G/C	snv	7.0E-06	2
rs121918507	FGFR2	0.882	0.280	10	121498591	missense variant	T/C	snv		2