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rs121918103

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918103(C;T)
Make rs121918103(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position71828084
GenePSAP
is asnp
is mentioned by
dbSNPrs121918103
ebirs121918103
HLIrs121918103
Exacrs121918103
Varsomers121918103
Maprs121918103
PheGenIrs121918103
hapmaprs121918103
1000 genomesrs121918103
hgdprs121918103
ensemblrs121918103
gopubmedrs121918103
geneviewrs121918103
scholarrs121918103
googlers121918103
pharmgkbrs121918103
gwascentralrs121918103
openSNPrs121918103
23andMers121918103
23andMe allrs121918103
SNP Nexus

SNPshotrs121918103
SNPdbers121918103
MSV3drs121918103
GWAS Ctlgrs121918103
Max Magnitude0
OMIM176801
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918103(T;T)
Alt rs121918103(T;T)
Reference rs121918103(C;C)
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.73587841G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014289.25,