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rs121918510

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918510(A;C)
Make rs121918510(C;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position121517441
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918510
ebirs121918510
HLIrs121918510
Exacrs121918510
Varsomers121918510
Maprs121918510
PheGenIrs121918510
hapmaprs121918510
1000 genomesrs121918510
hgdprs121918510
ensemblrs121918510
gopubmedrs121918510
geneviewrs121918510
scholarrs121918510
googlers121918510
pharmgkbrs121918510
gwascentralrs121918510
openSNPrs121918510
23andMers121918510
23andMe allrs121918510
SNP Nexus

SNPshotrs121918510
SNPdbers121918510
MSV3drs121918510
GWAS Ctlgrs121918510
Max Magnitude0
OMIM176943
Desc
Variant0039
Relatedalso
ClinVar
Risk rs121918510(C;C)
Alt rs121918510(C;C)
Reference rs121918510(A;A)
Significance Pathogenic
Disease Pfeiffer syndrome
Variation info
Gene FGFR2
CLNDBN Pfeiffer syndrome
Reversed 1
HGVS NC_000010.10:g.123276955T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014227.25,