rs4647924

Orientation

plus

Stabilized

plus

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

Make rs4647924(C;G)

Make rs4647924(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1801844

Gene

FGFR3

is a	snp
is	mentioned by
dbSNP	rs4647924
dbSNP (classic)	rs4647924
ClinGen	rs4647924
ebi	rs4647924
HLI	rs4647924
Exac	rs4647924
Gnomad	rs4647924
Varsome	rs4647924
LitVar	rs4647924
Map	rs4647924
PheGenI	rs4647924
Biobank	rs4647924
1000 genomes	rs4647924
hgdp	rs4647924
ensembl	rs4647924
geneview	rs4647924
scholar	rs4647924
google	rs4647924
pharmgkb	rs4647924
gwascentral	rs4647924
openSNP	rs4647924
23andMe	rs4647924
SNPshot	rs4647924
SNPdbe	rs4647924
MSV3d	rs4647924
GWAS Ctlg	rs4647924

Max Magnitude

0

OMIM	134934
Desc	MUENKE SYNDROME
Variant	0014
Related	also

ClinVar
Risk	rs4647924(G;G)
Alt	rs4647924(G;G)
Reference	Rs4647924(C;C)
Significance	Pathogenic
Disease	Muenke syndrome Saethre-Chotzen syndrome not specified Craniosynostosis not provided
Variation	info
Gene	FGFR3
CLNDBN	Muenke syndrome Saethre-Chotzen syndrome not specified Craniosynostosis not provided
Reversed	0
HGVS	NC_000004.11:g.1803571C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017746.31, RCV000017747.25, RCV000121075.1, RCV000193831.1, RCV000436385.1,