{{Rsnum
|rsid=120074128
|Chromosome=11
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=SMPD1
|position=6391945
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SMPD1
}}{{omim
|id=607608
|rsnum=120074128
|variant=0015
}}{{ClinVar
|rsid=120074128
|Reversed=0
|FwdREF=C
|FwdALT=A
|REF=C
|ALT=A
|RSPOS=6413175
|CHROM=11
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=SMPD1:6609
|GENE_NAME=SMPD1
|GENE_ID=6609
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.6413175C>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607608.0015
|CLNSIG=5
|CLNCUI=C0268243
|CLNDBN=Niemann-Pick disease, type B; Niemann-pick disease, intermediate, protracted neurovisceral
|Disease=Niemann-Pick disease; Niemann-pick disease
|CLNACC=RCV000003128.1; RCV000003129.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1370:C0268243:607616:77293:39390005; C2675646
}}