{{Rsnum
|rsid=121918105
|Chromosome=10
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=PSAP
|position=71819761
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PSAP
}}{{omim
|id=176801
|rsnum=121918105
|variant=0004
}}{{ClinVar
|rsid=121918105
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=73579518
|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.73579518C>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=176801.0004
|CLNSIG=5
|CLNCUI=C1864651
|CLNDBN=Gaucher disease, atypical, due to saposin C deficiency
|Disease=Gaucher disease
|CLNACC=RCV000014292.23
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1864651:610539:355
}}