{{Rsnum
|rsid=120074127
|Chromosome=11
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SMPD1
|position=6393680
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SMPD1
}}{{omim
|id=607608
|rsnum=120074127
|variant=0014
}}{{ClinVar
|rsid=120074127
|Reversed=0
|FwdREF=C
|FwdALT=G,T
|REF=C
|ALT=G,T
|RSPOS=6414910
|CHROM=11
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=SMPD1:6609
|GENE_NAME=SMPD1
|GENE_ID=6609
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000011.9:g.6414910C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607608.0014
|CLNSIG=5
|CLNCUI=C0268243
|CLNDBN=Niemann-Pick disease, type B
|Disease=Niemann-Pick disease
|CLNACC=RCV000003127.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1370:C0268243:607616:77293:39390005
}}