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rs121918104

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918104(C;C)
Make rs121918104(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position71825892
GenePSAP
is asnp
is mentioned by
dbSNPrs121918104
ebirs121918104
HLIrs121918104
Exacrs121918104
Varsomers121918104
Maprs121918104
PheGenIrs121918104
hapmaprs121918104
1000 genomesrs121918104
hgdprs121918104
ensemblrs121918104
gopubmedrs121918104
geneviewrs121918104
scholarrs121918104
googlers121918104
pharmgkbrs121918104
gwascentralrs121918104
openSNPrs121918104
23andMers121918104
23andMe allrs121918104
SNP Nexus

SNPshotrs121918104
SNPdbers121918104
MSV3drs121918104
GWAS Ctlgrs121918104
Max Magnitude0
OMIM176801
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918104(C;C)
Alt rs121918104(C;C)
Reference rs121918104(G;G)
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.73585649C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014291.23,