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Gene entry

G6PD

glucose-6-phosphate dehydrogenase

Chromosome
X
Cytoband
Xq28
Variants (rsID)
91

G6PD is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq28). Its official name is “glucose-6-phosphate dehydrogenase”. The reference table lists 91 variants (rsID) for this gene.

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Clinically classified variants

55 reference-table entries with clinical significance.

  • rs1050757Benignsingle nucleotide variantG6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs2230036Benignsingle nucleotide variantG6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs2230037Benignsingle nucleotide variantG6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs5986875Benignsingle nucleotide variantAnemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs1050828Conflicting interpretationssingle nucleotide variantG6PD ASAHI|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|X-linked parkinsonism-spasticity syndrome|G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Inborn genetic diseases|See cases
  • rs1050829Conflicting interpretationssingle nucleotide variantG6PD A+|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Malaria, susceptibility to|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Bone mineral density quantitative trait locus 18|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Inborn genetic diseases
  • rs137852313Conflicting interpretationssingle nucleotide variantG6PD ILESHA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852318Conflicting interpretationssingle nucleotide variantG6PD SEATTLE-LIKE|G6PD MODENA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD deficiency
  • rs137852326Conflicting interpretationssingle nucleotide variantG6PD GASTONIA|G6PD MINNESOTA|G6PD MARION|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Abnormal glucose-6-phosphate dehydrogenase level
  • rs137852342Conflicting interpretationssingle nucleotide variantG6PD MAHIDOL-LIKE|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs5030872Conflicting interpretationssingle nucleotide variantG6PD MALAGA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs76723693Conflicting interpretationssingle nucleotide variantG6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs111827785Likely benignsingle nucleotide variantG6PD deficiency
  • rs137852346Likely pathogenicsingle nucleotide variantG6PD AVEIRO|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852349Likely pathogenicsingle nucleotide variantG6PD NAMORU|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852315Othersingle nucleotide variantG6PD METAPONTO
  • rs137852319Othersingle nucleotide variantG6PD HARILAOU
  • rs137852323Othersingle nucleotide variantG6PD RIVERSIDE
  • rs137852324Othersingle nucleotide variantG6PD ANDALUS
  • rs137852333Othersingle nucleotide variantG6PD IERAPETRA
  • rs137852344Othersingle nucleotide variantG6PD NEAPOLIS
  • rs137852348Othersingle nucleotide variantG6PD SPLIT
  • rs267606835Othersingle nucleotide variantAnemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency
  • rs267606836Othersingle nucleotide variantAnemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency
  • rs137852314Pathogenicsingle nucleotide variantG6PD MAHIDOL|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to
  • rs137852316Pathogenicsingle nucleotide variantG6PD PORTICI|G6PD NASHVILLE|G6PD ANAHEIM|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852317Pathogenicsingle nucleotide variantG6PD SANTIAGO DE CUBA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852320Pathogenicsingle nucleotide variantG6PD IOWA|G6PD SPRINGFIELD|G6PD WALTER REED|G6PD IOWA CITY
  • rs137852321Pathogenicsingle nucleotide variantG6PD BEVERLY HILLS|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852322Pathogenicsingle nucleotide variantG6PD TOMAH
  • rs137852327Pathogenicsingle nucleotide variantG6PD VIANGCHAN|G6PD JAMMU|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD deficient hemolytic anemia|Inborn genetic diseases
  • rs137852328Pathogenicsingle nucleotide variantG6PD deficiency
  • rs137852329Pathogenicsingle nucleotide variantG6PD LOMA LINDA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852330Pathogenicsingle nucleotide variantG6PD COIMBRA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852331Pathogenicsingle nucleotide variantG6PD TAIWAN-HAKKA 2|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852332Pathogenicsingle nucleotide variantG6PD SANTIAGO|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852334Pathogenicsingle nucleotide variantG6PD GUADALAJARA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852335Pathogenicsingle nucleotide variantG6PD ALHAMBRA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852336Pathogenicsingle nucleotide variantG6PD JAPAN|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852337Pathogenicsingle nucleotide variantAnemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD PAWNEE
  • rs137852339Pathogenicsingle nucleotide variantG6PD KERALA-KALYAN|G6PD KERALA|G6PD KALYAN|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency
  • rs137852340Pathogenicsingle nucleotide variantG6PD GAOHE|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852343Pathogenicsingle nucleotide variantG6PD NANKANG|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852345Pathogenicsingle nucleotide variantG6PD SERRES|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs137852347Pathogenicsingle nucleotide variantG6PD REHOVOT|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs5030868Pathogenicsingle nucleotide variantG6PD SASSARI|G6PD MEDITERRANEAN|G6PD CAGLIARI|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Malaria, susceptibility to|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Inborn genetic diseases|Susceptibility to angioedema induced by ACE inhibitors|G6PD deficient hemolytic anemia|Hemolytic anemia, G6PD deficient (favism)|Malaria, susceptibility to|Decreased glucose-6-phosphate dehydrogenase level in blood
  • rs5030869Pathogenicsingle nucleotide variantG6PD CHATHAM|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Inborn genetic diseases|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to
  • rs72554664Pathogenicsingle nucleotide variantG6PD PETRICH-LIKE|G6PD SAPPORO-LIKE|G6PD ANANT|G6PD KAIPING|G6PD DHON|Malaria, susceptibility to|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Inborn genetic diseases
  • rs782090947Pathogenicsingle nucleotide variantAnemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs78365220Pathogenicsingle nucleotide variantG6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs78478128Pathogenicsingle nucleotide variantG6PD ORISSA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
  • rs201294737Uncertain significancesingle nucleotide variant
  • rs398123544Uncertain significancesingle nucleotide variant
  • rs5030870Uncertain significancesingle nucleotide variant
  • rs782764609Uncertain significancesingle nucleotide variantG6PD deficiency

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.