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rs121918494

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918494(C;G)
Make rs121918494(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position121517363
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918494
dbSNP (classic)rs121918494
ClinGenrs121918494
ebirs121918494
HLIrs121918494
Exacrs121918494
Gnomadrs121918494
Varsomers121918494
LitVarrs121918494
Maprs121918494
PheGenIrs121918494
Biobankrs121918494
1000 genomesrs121918494
hgdprs121918494
ensemblrs121918494
geneviewrs121918494
scholarrs121918494
googlers121918494
pharmgkbrs121918494
gwascentralrs121918494
openSNPrs121918494
23andMers121918494
SNPshotrs121918494
SNPdbers121918494
MSV3drs121918494
GWAS Ctlgrs121918494
Max Magnitude0
OMIM176943
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918494(G;G)
Alt rs121918494(G;G)
Reference Rs121918494(C;C)
Significance Pathogenic
Disease Crouzon syndrome
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome
Reversed 1
HGVS NC_000010.10:g.123276877G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014190.17,