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rs1050828 G6PD

AA

Imported from PharmGKB:3 · not individually reviewed Drug response · dbSNP

What is rs1050828?

rs1050828 is a single-nucleotide polymorphism (SNP) in the G6PD gene (Glucose-6-phosphate dehydrogenase). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as 0. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs1050828 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
0typicalAA85%
TTelevatedHomozygous risk allele (T). Associated with: Anemia, nonspherocytic hemolytic, due to g6pd deficiency; phenotype not specified; Direct bilirubin levels65%
CCtypicalNormal G6PD function at this position. Standard drug dosing.90%
CTincreasedG6PD A- variant carrier. Risk of hemolytic anemia with oxidative drugs. Rasburicase contraindicated.90%

Which drugs have annotations for rs1050828?

PharmGKB clinical annotations (level 1A is the strongest evidence, 4 the weakest):

DrugAnnotation typeEvidence level
artesunateToxicity3
primaquineToxicity3
pyrimethamineToxicity3
sulfadoxineToxicity3
amodiaquineToxicity3
chlorproguanilToxicity3
dapsoneToxicity3

Is rs1050828 on 23andMe and AncestryDNA chips?

Chip coverage is not recorded for this variant. Orviva reports it when a raw-data file contains it directly or via a well-correlated proxy SNP, and says so when it does not.

Sources

  • PharmGKB:3
  • Drug:artesunate
  • Type:Toxicity

Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.