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rs121918489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918489(C;C)
Make rs121918489(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position121517385
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918489
dbSNP (classic)rs121918489
ClinGenrs121918489
ebirs121918489
HLIrs121918489
Exacrs121918489
Gnomadrs121918489
Varsomers121918489
LitVarrs121918489
Maprs121918489
PheGenIrs121918489
Biobankrs121918489
1000 genomesrs121918489
hgdprs121918489
ensemblrs121918489
geneviewrs121918489
scholarrs121918489
googlers121918489
pharmgkbrs121918489
gwascentralrs121918489
openSNPrs121918489
23andMers121918489
SNPshotrs121918489
SNPdbers121918489
MSV3drs121918489
GWAS Ctlgrs121918489
Max Magnitude0
OMIM176943
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918489(C;C)
Alt rs121918489(C;C)
Reference Rs121918489(T;T)
Significance Pathogenic
Disease Crouzon syndrome
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome
Reversed 1
HGVS NC_000010.10:g.123276899A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014175.17,