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Gene entry

DPYD

dihydropyrimidine dehydrogenase

Chromosome
1
Cytoband
1p21.3
Variants (rsID)
429

DPYD is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p21.3). Its official name is “dihydropyrimidine dehydrogenase”. The reference table lists 429 variants (rsID) for this gene.

Clinically classified variants

53 reference-table entries with clinical significance.

  • rs291592Benignsingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs291593Benignsingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs56160474Benignsingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs56276561Benignsingle nucleotide variant
  • rs56293913Benignsingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs72728438Benignsingle nucleotide variant
  • rs114096998Conflicting interpretationssingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs142619737Conflicting interpretationssingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs189768576Conflicting interpretationssingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs200562975Conflicting interpretationssingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs367619008Conflicting interpretationssingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs3918289Conflicting interpretationssingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs45589337Conflicting interpretationssingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs61622928Conflicting interpretationssingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs72549304Conflicting interpretationssingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs777425216Conflicting interpretationssingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs115232898Drug responsesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency|fluorouracil response - Other|fluorouracil response - Toxicity
  • rs17376848Drug responsesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency|fluorouracil response - Toxicity|capecitabine response - Toxicity
  • rs1801158Drug responsesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency|fluorouracil response - Toxicity|capecitabine response - Toxicity
  • rs1801159Drug responsesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency|capecitabine response - Toxicity|fluorouracil response - Toxicity
  • rs1801160Drug responsesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency|capecitabine response - Toxicity|fluorouracil response - Other|fluorouracil response - Toxicity
  • rs1801265Drug responsesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency|capecitabine response - Toxicity|fluorouracil response - Toxicity
  • rs1801266Drug responsesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency|fluorouracil response - Other
  • rs1801268Drug responsesingle nucleotide variantfluorouracil response - Other
  • rs2297595Drug responsesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency|capecitabine response - Toxicity|fluorouracil response - Toxicity
  • rs3918290Drug responsesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency|Fluorouracil response|Hirschsprung disease, susceptibility to, 1|22 conditions|fluorouracil response - Toxicity|fluorouracil response - Other|capecitabine response - Toxicity|tegafur response - Toxicity
  • rs55886062Drug responsesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency|fluorouracil response - Other|capecitabine response - Toxicity|tegafur response - Toxicity|fluorouracil response - Toxicity
  • rs56038477Drug responsesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency|fluorouracil response - Toxicity|capecitabine response - Toxicity
  • rs67376798Drug responsesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency|Fluorouracil response|Inborn genetic diseases|tegafur response - Toxicity|capecitabine response - Toxicity|fluorouracil response - Toxicity|fluorouracil response - Other
  • rs72549303Drug responseDeletionfluorouracil response - Other|Dihydropyrimidine dehydrogenase deficiency
  • rs75017182Drug responsesingle nucleotide variantcapecitabine response - Toxicity|fluorouracil response - Toxicity|fluorouracil response - Other
  • rs199469537Likely benignsingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs72549310Likely pathogenicsingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs72547602Pathogenicsingle nucleotide variantFluorouracil response
  • rs138616379Uncertain significancesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs140602333Uncertain significancesingle nucleotide variant
  • rs141044036Uncertain significancesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs144395748Uncertain significancesingle nucleotide variant
  • rs146529561Uncertain significancesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs147601618Uncertain significancesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs1801267Uncertain significancesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs377143350Uncertain significancesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs547099198Uncertain significancesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs56056384Uncertain significancesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs72549305Uncertain significancesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs72549307Uncertain significancesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs72975710Uncertain significancesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs748639205Uncertain significancesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs760663364Uncertain significancesingle nucleotide variantDihydropyrimidine dehydrogenase deficiency
  • rs114968502Not classifiedsingle nucleotide variant
  • rs115349832Not classifiedsingle nucleotide variant
  • rs115632870Not classifiedsingle nucleotide variant
  • rs145548112Not classifiedsingle nucleotide variant

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.