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rs121918495

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918495(A;C)
Make rs121918495(C;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position121517382
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918495
dbSNP (classic)rs121918495
ClinGenrs121918495
ebirs121918495
HLIrs121918495
Exacrs121918495
Gnomadrs121918495
Varsomers121918495
LitVarrs121918495
Maprs121918495
PheGenIrs121918495
Biobankrs121918495
1000 genomesrs121918495
hgdprs121918495
ensemblrs121918495
geneviewrs121918495
scholarrs121918495
googlers121918495
pharmgkbrs121918495
gwascentralrs121918495
openSNPrs121918495
23andMers121918495
SNPshotrs121918495
SNPdbers121918495
MSV3drs121918495
GWAS Ctlgrs121918495
Max Magnitude0
OMIM176943
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918495(C;C)
Alt rs121918495(C;C)
Reference Rs121918495(A;A)
Significance Pathogenic
Disease Pfeiffer syndrome
Variation info
Gene FGFR2
CLNDBN Pfeiffer syndrome
Reversed 1
HGVS NC_000010.10:g.123276896T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014194.24,