{{Rsnum
|rsid=121918109
|Chromosome=10
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PSAP
|position=71819527
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PSAP
}}{{omim
|id=176801
|rsnum=121918109
|variant=0011
}}{{ClinVar
|rsid=121918109
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=73579284
|CHROM=10
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=PSAP:5660
|GENE_NAME=PSAP
|GENE_ID=5660
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.73579284G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=176801.0011
|CLNSIG=5
|CLNCUI=C1864651
|CLNDBN=Gaucher disease, atypical, due to saposin C deficiency
|Disease=Gaucher disease
|CLNACC=RCV000014300.22
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1864651:610539:355
}}