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rs4647924

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs4647924(C;G)
Make rs4647924(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1801844
GeneFGFR3
is asnp
is mentioned by
dbSNPrs4647924
ebirs4647924
HLIrs4647924
Exacrs4647924
Varsomers4647924
Maprs4647924
PheGenIrs4647924
hapmaprs4647924
1000 genomesrs4647924
hgdprs4647924
ensemblrs4647924
gopubmedrs4647924
geneviewrs4647924
scholarrs4647924
googlers4647924
pharmgkbrs4647924
gwascentralrs4647924
openSNPrs4647924
23andMers4647924
23andMe allrs4647924
SNP Nexus

SNPshotrs4647924
SNPdbers4647924
MSV3drs4647924
GWAS Ctlgrs4647924
Max Magnitude0
OMIM134934
DescMUENKE SYNDROME
Variant0014
Relatedalso


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