{{Rsnum
|rsid=120074125
|Chromosome=11
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=SMPD1
|position=6393301
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SMPD1
}}{{omim
|id=607608
|rsnum=120074125
|variant=0012
}}{{ClinVar
|rsid=120074125
|Reversed=0
|FwdREF=T
|FwdALT=G
|REF=T
|ALT=G
|RSPOS=6414531
|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.6414531T>G
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;OTHERKG;LSD;OM
|CLNACC=RCV000003125.1
|CLNDBN=Niemann-pick disease, intermediate, protracted neurovisceral
|CLNDSDB=MedGen
|CLNDSDBID=C2675646
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=607608.0012
|Disease=Niemann-pick disease
}}