rs121918495

Orientation

minus

Stabilized

minus

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

Make rs121918495(A;C)

Make rs121918495(C;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

121517382

Gene

FGFR2

is a	snp
is	mentioned by
dbSNP	rs121918495
dbSNP (classic)	rs121918495
ClinGen	rs121918495
ebi	rs121918495
HLI	rs121918495
Exac	rs121918495
Gnomad	rs121918495
Varsome	rs121918495
LitVar	rs121918495
Map	rs121918495
PheGenI	rs121918495
Biobank	rs121918495
1000 genomes	rs121918495
hgdp	rs121918495
ensembl	rs121918495
geneview	rs121918495
scholar	rs121918495
google	rs121918495
pharmgkb	rs121918495
gwascentral	rs121918495
openSNP	rs121918495
23andMe	rs121918495
SNPshot	rs121918495
SNPdbe	rs121918495
MSV3d	rs121918495
GWAS Ctlg	rs121918495

Max Magnitude

0

OMIM	176943
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121918495(C;C)
Alt	rs121918495(C;C)
Reference	Rs121918495(A;A)
Significance	Pathogenic
Disease	Pfeiffer syndrome
Variation	info
Gene	FGFR2
CLNDBN	Pfeiffer syndrome
Reversed	1
HGVS	NC_000010.10:g.123276896T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014194.24,