{{Rsnum
|rsid=1050239
|Gene=SMPD1
|Chromosome=11
|position=6394233
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.18
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SMPD1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.9 | 45.1 | 54.0
| HCB | 0.7 | 38.2 | 61.0
| JPT | 3.5 | 23.9 | 72.6
| YRI | 2.7 | 22.4 | 74.8
| ASW | 1.8 | 15.8 | 82.5
| CHB | 0.7 | 38.2 | 61.0
| CHD | 1.8 | 24.8 | 73.4
| GIH | 1.0 | 23.8 | 75.2
| LWK | 0.9 | 24.5 | 74.5
| MEX | 1.7 | 24.1 | 74.1
| MKK | 0.0 | 15.4 | 84.6
| TSI | 6.9 | 23.5 | 69.6
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1050239
|allele=A
|frequency=
|uid=1103649597786
|type=heterozygous_SNP
|hugo=SMPD1
|ensembl gene=ENSG00000166311
|ensembl transcript=ENST00000342245
|sift=TOLERATED
|disease=Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPB) (MIM:607616); also referred to as the visceral form. NPB has little if any neurologic involvement and patients may survive into adulthood.
}}

{{GET Evidence
|gene=SMPD1
|aa_change=Gly508Arg
|aa_change_short=G508R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1050239
|overall_frequency_n=2147
|overall_frequency_d=10758
|overall_frequency=0.199572
|n_genomes=16
|n_genomes_annotated=0
|n_haplomes=16
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=6
|autoscore=3
|n_web_uneval=8
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}