rs121918499

Orientation

minus

Stabilized

minus

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

Make rs121918499(C;C)

Make rs121918499(C;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

121520048

Gene

FGFR2

is a	snp
is	mentioned by
dbSNP	rs121918499
dbSNP (classic)	rs121918499
ClinGen	rs121918499
ebi	rs121918499
HLI	rs121918499
Exac	rs121918499
Gnomad	rs121918499
Varsome	rs121918499
LitVar	rs121918499
Map	rs121918499
PheGenI	rs121918499
Biobank	rs121918499
1000 genomes	rs121918499
hgdp	rs121918499
ensembl	rs121918499
geneview	rs121918499
scholar	rs121918499
google	rs121918499
pharmgkb	rs121918499
gwascentral	rs121918499
openSNP	rs121918499
23andMe	rs121918499
SNPshot	rs121918499
SNPdbe	rs121918499
MSV3d	rs121918499
GWAS Ctlg	rs121918499

Max Magnitude

0

OMIM	176943
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121918499(C;C) rs121918499(T;T)
Alt	rs121918499(C;C) rs121918499(T;T)
Reference	Rs121918499(G;G)
Significance	Pathogenic
Disease	Pfeiffer syndrome Craniofacial-skeletal-dermatologic dysplasia Squamous cell carcinoma of lung
Variation	info
Gene	FGFR2
CLNDBN	Pfeiffer syndrome Craniofacial-skeletal-dermatologic dysplasia Squamous cell carcinoma of lung
Reversed	1
HGVS	NC_000010.10:g.123279562C>A; NC_000010.10:g.123279562C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014217.24, RCV000014218.24, RCV000014203.25, RCV000419759.1,