Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918106

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918106(A;T)
Make rs121918106(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position71851221
GenePSAP
is asnp
is mentioned by
dbSNPrs121918106
ebirs121918106
HLIrs121918106
Exacrs121918106
Varsomers121918106
Maprs121918106
PheGenIrs121918106
hapmaprs121918106
1000 genomesrs121918106
hgdprs121918106
ensemblrs121918106
gopubmedrs121918106
geneviewrs121918106
scholarrs121918106
googlers121918106
pharmgkbrs121918106
gwascentralrs121918106
openSNPrs121918106
23andMers121918106
23andMe allrs121918106
SNP Nexus

SNPshotrs121918106
SNPdbers121918106
MSV3drs121918106
GWAS Ctlgrs121918106
Max Magnitude0
OMIM176801
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918106(G,T;G,T)
Alt rs121918106(G,T;G,T)
Reference rs121918106(A;A)
Significance Pathogenic
Disease Combined saposin deficiency Gaucher disease
Variation info
Gene PSAP
CLNDBN Combined saposin deficiency Gaucher disease, atypical, due to saposin C deficiency
Reversed 1
HGVS NC_000010.10:g.73610978T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014293.25, RCV000014294.17,