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 EXOME	AF GENOME	Num. diseases
rs121918497	FGFR2	0.776	0.160	10	121520052	missense variant	T/G	snv			3
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
rs121918498	FGFR2	1.000	0.080	10	121520162	missense variant	CG/AA	mnv			1
rs387907372	FGFR2	1.000	0.080	10	121520160	missense variant	GGC/AAG	mnv			1
rs777169135	FGFR2	0.851	0.080	10	121488064	missense variant	T/C;G	snv	4.0E-06		1
rs1057520044	FGFR2	1.000	0.080	10	121498597	missense variant	T/C	snv			1
rs121913475	FGFR2			10	121519989	missense variant	T/C	snv			1
rs1057520028	FGFR2			10	121515283	missense variant	T/C	snv			1
rs1057520029	FGFR2	0.925	0.120	10	121488003	missense variant	T/A	snv			1
rs1057520027	FGFR2			10	121488005	missense variant	T/C	snv			1
rs1057519791	FGFR2	1.000	0.080	10	121518810	missense variant	G/C	snv			1
rs879253718	FGFR2	1.000	0.080	10	121520109	inframe deletion	ACCACT/-	del			1
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
rs879253719	FGFR2	1.000	0.080	10	121517464	splice acceptor variant	C/T	snv			1
rs1358919643	FGFR2	1.000	0.080	10	121517463	missense variant	C/A;T	snv	4.0E-06		1
rs121918495	FGFR2	0.925	0.080	10	121517382	missense variant	T/G	snv			1