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rs121918504

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918504(G;T)
Make rs121918504(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position121517460
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918504
ebirs121918504
HLIrs121918504
Exacrs121918504
Varsomers121918504
Maprs121918504
PheGenIrs121918504
hapmaprs121918504
1000 genomesrs121918504
hgdprs121918504
ensemblrs121918504
gopubmedrs121918504
geneviewrs121918504
scholarrs121918504
googlers121918504
pharmgkbrs121918504
gwascentralrs121918504
openSNPrs121918504
23andMers121918504
23andMe allrs121918504
SNP Nexus

SNPshotrs121918504
SNPdbers121918504
MSV3drs121918504
GWAS Ctlgrs121918504
Max Magnitude0
OMIM176943
Desc
Variant0028
Relatedalso
ClinVar
Risk rs121918504(A,T;A,T)
Alt rs121918504(A,T;A,T)
Reference rs121918504(G;G)
Significance Pathogenic
Disease Craniosynostosis
Variation info
Gene FGFR2
CLNDBN Craniosynostosis, nonsyndromic unicoronal
Reversed 1
HGVS NC_000010.10:g.123276974C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014212.17,