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rs121918108

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918108(G;G)
Make rs121918108(G;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position71819762
GenePSAP
is asnp
is mentioned by
dbSNPrs121918108
ebirs121918108
HLIrs121918108
Exacrs121918108
Varsomers121918108
Maprs121918108
PheGenIrs121918108
hapmaprs121918108
1000 genomesrs121918108
hgdprs121918108
ensemblrs121918108
gopubmedrs121918108
geneviewrs121918108
scholarrs121918108
googlers121918108
pharmgkbrs121918108
gwascentralrs121918108
openSNPrs121918108
23andMers121918108
23andMe allrs121918108
SNP Nexus

SNPshotrs121918108
SNPdbers121918108
MSV3drs121918108
GWAS Ctlgrs121918108
Max Magnitude0
OMIM176801
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918108(G;G)
Alt rs121918108(G;G)
Reference rs121918108(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.73579519A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014299.25,