rs1057519047

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs1057519047(A;G)

Make rs1057519047(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

121488055

Gene

FGFR2

is a	snp
is	mentioned by
dbSNP	rs1057519047
dbSNP (classic)	rs1057519047
ClinGen	rs1057519047
ebi	rs1057519047
HLI	rs1057519047
Exac	rs1057519047
Gnomad	rs1057519047
Varsome	rs1057519047
LitVar	rs1057519047
Map	rs1057519047
PheGenI	rs1057519047
Biobank	rs1057519047
1000 genomes	rs1057519047
hgdp	rs1057519047
ensembl	rs1057519047
geneview	rs1057519047
scholar	rs1057519047
google	rs1057519047
pharmgkb	rs1057519047
gwascentral	rs1057519047
openSNP	rs1057519047
23andMe	rs1057519047
SNPshot	rs1057519047
SNPdbe	rs1057519047
MSV3d	rs1057519047
GWAS Ctlg	rs1057519047

Max Magnitude

0

ClinVar
Risk	rs1057519047(G;G)
Alt	rs1057519047(G;G)
Reference	Rs1057519047(A;A)
Significance	Probable-Pathogenic
Disease	Pfeiffer syndrome
Variation	info
Gene	FGFR2
CLNDBN	Pfeiffer syndrome
Reversed	1
HGVS	NC_000010.10:g.123247569T>C
CLNSRC
CLNACC	RCV000415480.1,