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rs121918107

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918107(A;C)
Make rs121918107(C;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position71828091
GenePSAP
is asnp
is mentioned by
dbSNPrs121918107
ebirs121918107
HLIrs121918107
Exacrs121918107
Varsomers121918107
Maprs121918107
PheGenIrs121918107
hapmaprs121918107
1000 genomesrs121918107
hgdprs121918107
ensemblrs121918107
gopubmedrs121918107
geneviewrs121918107
scholarrs121918107
googlers121918107
pharmgkbrs121918107
gwascentralrs121918107
openSNPrs121918107
23andMers121918107
23andMe allrs121918107
SNP Nexus

SNPshotrs121918107
SNPdbers121918107
MSV3drs121918107
GWAS Ctlgrs121918107
Max Magnitude0
OMIM176801
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918107(C;C)
Alt rs121918107(C;C)
Reference rs121918107(A;A)
Significance Pathogenic
Disease Sphingolipid activator protein 1 deficiency
Variation info
Gene PSAP
CLNDBN Sphingolipid activator protein 1 deficiency
Reversed 1
HGVS NC_000010.10:g.73587848T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014296.17,