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rs121918492

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918492(C;G)
Make rs121918492(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position121517372
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918492
dbSNP (classic)rs121918492
ClinGenrs121918492
ebirs121918492
HLIrs121918492
Exacrs121918492
Gnomadrs121918492
Varsomers121918492
LitVarrs121918492
Maprs121918492
PheGenIrs121918492
Biobankrs121918492
1000 genomesrs121918492
hgdprs121918492
ensemblrs121918492
geneviewrs121918492
scholarrs121918492
googlers121918492
pharmgkbrs121918492
gwascentralrs121918492
openSNPrs121918492
23andMers121918492
SNPshotrs121918492
SNPdbers121918492
MSV3drs121918492
GWAS Ctlgrs121918492
Max Magnitude0
OMIM176943
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918492(G;G)
Alt rs121918492(G;G)
Reference Rs121918492(C;C)
Significance Pathogenic
Disease Jackson-Weiss syndrome Crouzon syndrome
Variation info
Gene FGFR2
CLNDBN Jackson-Weiss syndrome Crouzon syndrome
Reversed 1
HGVS NC_000010.10:g.123276886G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014187.25, RCV000014188.25,