rs121918491

Orientation

minus

Stabilized

minus

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

Make rs121918491(A;A)

Make rs121918491(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

121517371

Gene

FGFR2

is a	snp
is	mentioned by
dbSNP	rs121918491
dbSNP (classic)	rs121918491
ClinGen	rs121918491
ebi	rs121918491
HLI	rs121918491
Exac	rs121918491
Gnomad	rs121918491
Varsome	rs121918491
LitVar	rs121918491
Map	rs121918491
PheGenI	rs121918491
Biobank	rs121918491
1000 genomes	rs121918491
hgdp	rs121918491
ensembl	rs121918491
geneview	rs121918491
scholar	rs121918491
google	rs121918491
pharmgkb	rs121918491
gwascentral	rs121918491
openSNP	rs121918491
23andMe	rs121918491
SNPshot	rs121918491
SNPdbe	rs121918491
MSV3d	rs121918491
GWAS Ctlg	rs121918491

Max Magnitude

0

OMIM	176943
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918491(A;A)
Alt	rs121918491(A;A)
Reference	Rs121918491(G;G)
Significance	Pathogenic
Disease	Crouzon syndrome Craniosynostosis Scaphocephaly and axenfeld-rieger anomaly
Variation	info
Gene	FGFR2
CLNDBN	Crouzon syndrome Craniosynostosis, nonclassifiable autosomal dominant Scaphocephaly and axenfeld-rieger anomaly Craniosynostosis
Reversed	1
HGVS	NC_000010.10:g.123276885C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014184.23, RCV000014185.17, RCV000014186.24, RCV000192353.1,