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rs121918493

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918493(A;G)
Make rs121918493(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position121517420
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918493
dbSNP (classic)rs121918493
ClinGenrs121918493
ebirs121918493
HLIrs121918493
Exacrs121918493
Gnomadrs121918493
Varsomers121918493
LitVarrs121918493
Maprs121918493
PheGenIrs121918493
Biobankrs121918493
1000 genomesrs121918493
hgdprs121918493
ensemblrs121918493
geneviewrs121918493
scholarrs121918493
googlers121918493
pharmgkbrs121918493
gwascentralrs121918493
openSNPrs121918493
23andMers121918493
SNPshotrs121918493
SNPdbers121918493
MSV3drs121918493
GWAS Ctlgrs121918493
Max Magnitude0
OMIM176943
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918493(G;G)
Alt rs121918493(G;G)
Reference Rs121918493(A;A)
Significance Pathogenic
Disease Crouzon syndrome
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome
Reversed 1
HGVS NC_000010.10:g.123276934T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014189.24,