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rs121918105

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918105(G;T)
Make rs121918105(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position71819761
GenePSAP
is asnp
is mentioned by
dbSNPrs121918105
ebirs121918105
HLIrs121918105
Exacrs121918105
Varsomers121918105
Maprs121918105
PheGenIrs121918105
hapmaprs121918105
1000 genomesrs121918105
hgdprs121918105
ensemblrs121918105
gopubmedrs121918105
geneviewrs121918105
scholarrs121918105
googlers121918105
pharmgkbrs121918105
gwascentralrs121918105
openSNPrs121918105
23andMers121918105
23andMe allrs121918105
SNP Nexus

SNPshotrs121918105
SNPdbers121918105
MSV3drs121918105
GWAS Ctlgrs121918105
Max Magnitude0
OMIM176801
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918105(T;T)
Alt rs121918105(T;T)
Reference rs121918105(G;G)
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.73579518C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014292.24,