{{Rsnum
|rsid=267607073
|Chromosome=11
|position=6393667
|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=A
|CHROM=11
|CLNACC=RCV000003117.1
|CLNALLE=1
|CLNDBN=Niemann-Pick disease, type B
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1370:C0268243:607616:77293:39390005
|CLNHGVS=NC_000011.9:g.6414897C>A
|CLNSIG=5
|CLNSRC=GTR; OMIM Allelic Variant
|CLNSRCID=GTR000321633; 607608.0004
|Disease=Niemann-Pick disease
|FwdALT=A
|FwdREF=C
|GENEINFO=SMPD1:6609
|GENE_ID=6609
|GENE_NAME=SMPD1
|REF=C
|RSPOS=6414897
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267607073
}}