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Gene entry

ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1

Chromosome
6
Cytoband
6q23.2
Variants (rsID)
26

ENPP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q23.2). Its official name is “ectonucleotide pyrophosphatase/phosphodiesterase 1”. The reference table lists 26 variants (rsID) for this gene.

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Clinically classified variants

9 reference-table entries with clinical significance.

  • rs1805138Benignsingle nucleotide variantHypophosphatemic rickets, autosomal recessive, 2|Arterial calcification, generalized, of infancy, 1
  • rs7754561Benignsingle nucleotide variantObesity|Hypophosphatemic rickets, autosomal recessive, 2|Arterial calcification, generalized, of infancy, 1
  • rs1044498Conflicting interpretationssingle nucleotide variantInsulin resistance, susceptibility to|Obesity|Hypophosphatemic rickets, autosomal recessive, 2|Arterial calcification, generalized, of infancy, 1|Diabetes mellitus type 2, susceptibility to|Hypopigmentation-punctate palmoplantar keratoderma syndrome|Hypophosphatemic rickets|Type 2 diabetes mellitus
  • rs28933977Conflicting interpretationssingle nucleotide variantArterial calcification, generalized, of infancy, 1|Hypophosphatemic rickets, autosomal recessive, 2|Type 2 diabetes mellitus
  • rs374270497Conflicting interpretationssingle nucleotide variantArterial calcification, generalized, of infancy, 1|Hypophosphatemic rickets, autosomal recessive, 2
  • rs8192683Conflicting interpretationssingle nucleotide variantHypophosphatemic rickets, autosomal recessive, 2|Arterial calcification, generalized, of infancy, 1|Type 2 diabetes mellitus
  • rs117531639Likely benignsingle nucleotide variantArterial calcification, generalized, of infancy, 1|Hypophosphatemic rickets, autosomal recessive, 2
  • rs121908249Pathogenicsingle nucleotide variantHypophosphatemic rickets, autosomal recessive, 2
  • rs17847050Uncertain significancesingle nucleotide variantHypophosphatemic rickets, autosomal recessive, 2|Arterial calcification, generalized, of infancy, 1

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.