{{Rsnum
|rsid=120074118
|Chromosome=11
|Orientation=plus
|geno1=(-;-)
|geno2=(-;CGC)
|geno3=(CGC;CGC)
|Gene=SMPD1
|position=6394539
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SMPD1
}}{{omim
|id=607608
|rsnum=120074118
|variant=0002
}}{{ClinVar
|rsid=120074118
|Reversed=0
|FwdREF=CGC
|FwdALT=
|REF=CCGC
|ALT=C
|RSPOS=6415768
|CHROM=11
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110200
|GENEINFO=SMPD1:6609
|GENE_NAME=SMPD1
|GENE_ID=6609
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.6415769_6415771delCGC
|CLNSRC=GTR; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=GTR000321633; GTR000334175; GTR000501121; 607608.0002
|CLNSIG=5
|CLNCUI=C0268243
|CLNDBN=Niemann-Pick disease, type B
|Disease=Niemann-Pick disease
|CLNACC=RCV000003115.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1370:C0268243:607616:77293:39390005
}}