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rs121918490

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918490(C;G)
Make rs121918490(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position121517342
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918490
dbSNP (classic)rs121918490
ClinGenrs121918490
ebirs121918490
HLIrs121918490
Exacrs121918490
Gnomadrs121918490
Varsomers121918490
LitVarrs121918490
Maprs121918490
PheGenIrs121918490
Biobankrs121918490
1000 genomesrs121918490
hgdprs121918490
ensemblrs121918490
geneviewrs121918490
scholarrs121918490
googlers121918490
pharmgkbrs121918490
gwascentralrs121918490
openSNPrs121918490
23andMers121918490
SNPshotrs121918490
SNPdbers121918490
MSV3drs121918490
GWAS Ctlgrs121918490
Max Magnitude0
OMIM176943
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918490(G;G)
Alt rs121918490(G;G)
Reference Rs121918490(C;C)
Significance Pathogenic
Disease Crouzon syndrome
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome
Reversed 1
HGVS NC_000010.10:g.123276856G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014176.24,