{{Rsnum
|rsid=121918107
|Chromosome=10
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=PSAP
|position=71828091
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PSAP
}}{{omim
|id=176801
|rsnum=121918107
|variant=0007
}}{{ClinVar
|rsid=121918107
|Reversed=1
|FwdREF=A
|FwdALT=C
|REF=T
|ALT=G
|RSPOS=73587848
|CHROM=10
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=PSAP:5660
|GENE_NAME=PSAP
|GENE_ID=5660
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.73587848T>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=176801.0007
|CLNSIG=5
|CLNCUI=C0268262
|CLNDBN=Sphingolipid activator protein 1 deficiency
|Disease=Sphingolipid activator protein 1 deficiency
|CLNACC=RCV000014296.16
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0268262:249900:512:68390005
}}