{{Rsnum
|rsid=267607074
|Chromosome=11
|position=6393961
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=SMPD1
|Gene_s=SMPD1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=plus
}}{{ClinVar
|ALT=C
|CHROM=11
|CLNACC=RCV000003131.1
|CLNALLE=1
|CLNDBN=Niemann-Pick disease, type A
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1370:C0268242:257200:77292:52165006
|CLNHGVS=NC_000011.9:g.6415191A>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=607608.0017
|Disease=Niemann-Pick disease
|FwdALT=C
|FwdREF=A
|GENEINFO=SMPD1:6609
|GENE_ID=6609
|GENE_NAME=SMPD1
|REF=A
|RSPOS=6415191
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267607074
}}