{{Rsnum
|rsid=387906289
|Chromosome=11
|position=6392061
|Orientation=plus
|geno1=(-;-)
|geno2=(-;C)
|geno3=(C;C)
|Gene=SMPD1
|Gene_s=SMPD1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=11
|CLNACC=RCV000003124.1
|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.6413291delC
|CLNSIG=5
|CLNSRC=GTR; OMIM Allelic Variant
|CLNSRCID=GTR000321633; GTR000334175; 607608.0011
|Disease=Niemann-Pick disease
|FwdREF=C
|REF=TC
|RSPOS=6413285
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050060000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=387906289
|GENEINFO=SMPD1:6609
|GENE_ID=6609
|GENE_NAME=SMPD1
}}