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rs121918110

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918110(C;C)
Make rs121918110(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position71819860
GenePSAP
is asnp
is mentioned by
dbSNPrs121918110
ebirs121918110
HLIrs121918110
Exacrs121918110
Varsomers121918110
Maprs121918110
PheGenIrs121918110
hapmaprs121918110
1000 genomesrs121918110
hgdprs121918110
ensemblrs121918110
gopubmedrs121918110
geneviewrs121918110
scholarrs121918110
googlers121918110
pharmgkbrs121918110
gwascentralrs121918110
openSNPrs121918110
23andMers121918110
23andMe allrs121918110
SNP Nexus

SNPshotrs121918110
SNPdbers121918110
MSV3drs121918110
GWAS Ctlgrs121918110
Max Magnitude0
OMIM176801
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918110(C;C)
Alt rs121918110(C;C)
Reference rs121918110(T;T)
Significance Pathogenic
Disease Gaucher disease
Variation info
Gene PSAP
CLNDBN Gaucher disease, atypical, due to saposin C deficiency
Reversed 1
HGVS NC_000010.10:g.73579617A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014301.24,