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rs121918496

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918496(C;G)
Make rs121918496(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position121517377
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918496
ebirs121918496
HLIrs121918496
Exacrs121918496
Varsomers121918496
Maprs121918496
PheGenIrs121918496
hapmaprs121918496
1000 genomesrs121918496
hgdprs121918496
ensemblrs121918496
gopubmedrs121918496
geneviewrs121918496
scholarrs121918496
googlers121918496
pharmgkbrs121918496
gwascentralrs121918496
openSNPrs121918496
23andMers121918496
23andMe allrs121918496
SNP Nexus

SNPshotrs121918496
SNPdbers121918496
MSV3drs121918496
GWAS Ctlgrs121918496
Max Magnitude0
OMIM176943
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121918496(G;G)
Alt rs121918496(G;G)
Reference rs121918496(C;C)
Significance Pathogenic
Disease Crouzon syndrome
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome
Reversed 1
HGVS NC_000010.10:g.123276891G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014195.17,