{{Rsnum
|rsid=120074120
|Chromosome=11
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=SMPD1
|position=6391853
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SMPD1
}}{{omim
|id=607608
|rsnum=120074120
|variant=0005
}}{{ClinVar
|rsid=120074120
|Reversed=0
|FwdREF=T
|FwdALT=A
|REF=T
|ALT=A
|RSPOS=6413083
|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.6413083T>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607608.0005
|CLNSIG=5
|CLNCUI=C0268242
|CLNDBN=Niemann-Pick disease, type A
|Disease=Niemann-Pick disease
|CLNACC=RCV000003118.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1370:C0268242:257200:77292:52165006
}}