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

rs121918109

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918109(C;T)
Make rs121918109(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position71819527
GenePSAP
is asnp
is mentioned by
dbSNPrs121918109
ebirs121918109
HLIrs121918109
Exacrs121918109
Varsomers121918109
Maprs121918109
PheGenIrs121918109
hapmaprs121918109
1000 genomesrs121918109
hgdprs121918109
ensemblrs121918109
gopubmedrs121918109
geneviewrs121918109
scholarrs121918109
googlers121918109
pharmgkbrs121918109
gwascentralrs121918109
openSNPrs121918109
23andMers121918109
23andMe allrs121918109
SNP Nexus

SNPshotrs121918109
SNPdbers121918109
MSV3drs121918109
GWAS Ctlgrs121918109
Max Magnitude0
OMIM176801
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121918109(T;T)
Alt rs121918109(T;T)
Reference rs121918109(C;C)
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.73579284G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014300.23,