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Gene entry

SMPD1

sphingomyelin phosphodiesterase 1

Chromosome
11
Cytoband
11p15.4
Variants (rsID)
27

SMPD1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p15.4). Its official name is “sphingomyelin phosphodiesterase 1”. The reference table lists 27 variants (rsID) for this gene.

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Clinically classified variants

23 reference-table entries with clinical significance.

  • rs1050239Benignsingle nucleotide variantNiemann-Pick disease, type A|Niemann-Pick disease, type A|Niemann-Pick disease, type B|Niemann-Pick disease, type B
  • rs113467489Benignsingle nucleotide variantNiemann-Pick disease, type A|Niemann-Pick disease, type A|Niemann-Pick disease, type B
  • rs35098198Benignsingle nucleotide variantNiemann-Pick disease, type A|Niemann-Pick disease, type B|Niemann-Pick disease, type A
  • rs61876771Benignsingle nucleotide variantNiemann-Pick disease, type A|Niemann-Pick disease, type B|Niemann-Pick disease, type A|Sphingomyelin/cholesterol lipidosis
  • rs72896268Benignsingle nucleotide variantNiemann-Pick disease, type A|Niemann-Pick disease, type A|Niemann-Pick disease, type B|Sphingomyelin/cholesterol lipidosis
  • rs141387770Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type A|Niemann-Pick disease, type B|Niemann-Pick disease, type A|Sphingomyelin/cholesterol lipidosis
  • rs142787001Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type A|Niemann-Pick disease, type B|Niemann-Pick disease, type A|Sphingomyelin/cholesterol lipidosis|Niemann-Pick disease, type B
  • rs143612450Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type A|Niemann-Pick disease, type A|Niemann-Pick disease, type B|Sphingomyelin/cholesterol lipidosis
  • rs148944108Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type A|Niemann-Pick disease, type B|Niemann-Pick disease, type A|Sphingomyelin/cholesterol lipidosis
  • rs35122256Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type A|Niemann-Pick disease, type B|Niemann-Pick disease, type A|Sphingomyelin/cholesterol lipidosis
  • rs552841217Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type A|Niemann-Pick disease, type A|Niemann-Pick disease, type B|Sphingomyelin/cholesterol lipidosis
  • rs1057516403PathogenicDeletionNiemann-Pick disease, type A|Niemann-Pick disease, type A|Niemann-Pick disease, type B
  • rs120074119Pathogenicsingle nucleotide variantNiemann-Pick disease, type A|Sphingomyelin/cholesterol lipidosis|Niemann-Pick disease, type A|Niemann-Pick disease, type B
  • rs120074122Pathogenicsingle nucleotide variantNiemann-Pick disease, type B|Sphingomyelin/cholesterol lipidosis|Niemann-Pick disease, type B|Niemann-Pick disease, type A
  • rs120074124Pathogenicsingle nucleotide variantNiemann-Pick disease, type A|Sphingomyelin/cholesterol lipidosis|Niemann-Pick disease, type B|Niemann-Pick disease, type B|Niemann-Pick disease, type A
  • rs120074125Pathogenicsingle nucleotide variantNiemann-pick disease, intermediate, protracted neurovisceral|Niemann-Pick disease, type A|Niemann-Pick disease, type A|Niemann-Pick disease, type B|Sphingomyelin/cholesterol lipidosis
  • rs120074126Pathogenicsingle nucleotide variantNiemann-Pick disease, type B|Sphingomyelin/cholesterol lipidosis|Niemann-Pick disease, type A|Niemann-Pick disease, type B|Niemann-Pick disease, type A
  • rs120074128Pathogenicsingle nucleotide variantNiemann-Pick disease, type B|Niemann-pick disease, intermediate, protracted neurovisceral|Niemann-Pick disease, type A|Niemann-Pick disease, type A|Niemann-Pick disease, type B|Sphingomyelin/cholesterol lipidosis
  • rs182812968Pathogenicsingle nucleotide variantNiemann-Pick disease, type A|Sphingomyelin/cholesterol lipidosis|Niemann-Pick disease, type A|Niemann-Pick disease, type B
  • rs281860677PathogenicDuplicationNiemann-Pick disease, type A
  • rs138531908Uncertain significancesingle nucleotide variantNiemann-Pick disease, type A
  • rs142215226Uncertain significancesingle nucleotide variantNiemann-Pick disease, type A|Niemann-Pick disease, type B|Niemann-Pick disease, type A|Sphingomyelin/cholesterol lipidosis
  • rs747342458Not classifiedsingle nucleotide variantSphingomyelin/cholesterol lipidosis

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.