rs121918497

Orientation

minus

Stabilized

minus

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

Make rs121918497(A;C)

Make rs121918497(C;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

121520052

Gene

FGFR2

is a	snp
is	mentioned by
dbSNP	rs121918497
dbSNP (classic)	rs121918497
ClinGen	rs121918497
ebi	rs121918497
HLI	rs121918497
Exac	rs121918497
Gnomad	rs121918497
Varsome	rs121918497
LitVar	rs121918497
Map	rs121918497
PheGenI	rs121918497
Biobank	rs121918497
1000 genomes	rs121918497
hgdp	rs121918497
ensembl	rs121918497
geneview	rs121918497
scholar	rs121918497
google	rs121918497
pharmgkb	rs121918497
gwascentral	rs121918497
openSNP	rs121918497
23andMe	rs121918497
SNPshot	rs121918497
SNPdbe	rs121918497
MSV3d	rs121918497
GWAS Ctlg	rs121918497

Max Magnitude

0

OMIM	176943
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121918497(C;C)
Alt	rs121918497(C;C)
Reference	Rs121918497(A;A)
Significance	Pathogenic
Disease	Crouzon syndrome Jackson-Weiss syndrome Pfeiffer syndrome
Variation	info
Gene	FGFR2
CLNDBN	Crouzon syndrome Jackson-Weiss syndrome Pfeiffer syndrome
Reversed	1
HGVS	NC_000010.10:g.123279566T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014196.17, RCV000014197.24, RCV000415509.1,