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rs121918501

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918501(C;C)
Make rs121918501(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position121520050
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918501
ebirs121918501
HLIrs121918501
Exacrs121918501
Varsomers121918501
Maprs121918501
PheGenIrs121918501
hapmaprs121918501
1000 genomesrs121918501
hgdprs121918501
ensemblrs121918501
gopubmedrs121918501
geneviewrs121918501
scholarrs121918501
googlers121918501
pharmgkbrs121918501
gwascentralrs121918501
openSNPrs121918501
23andMers121918501
23andMe allrs121918501
SNP Nexus

SNPshotrs121918501
SNPdbers121918501
MSV3drs121918501
GWAS Ctlgrs121918501
Max Magnitude0
OMIM176943
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121918501(C,G;C,G)
Alt rs121918501(C,G;C,G)
Reference rs121918501(T;T)
Significance Pathogenic
Disease Crouzon syndrome
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome
Reversed 1
HGVS NC_000010.10:g.123279564A>C; NC_000010.10:g.123279564A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014206.25, RCV000014205.25,