rs1050829

This is a missense variant in the G6PD gene.

Key Literature Trait Associations

G6PD Enzyme Activity

G6PD A (N126D) defines the G6PD A variant, which alone causes only mild reduction in enzyme activity (sometimes called G6PD A+ with near-normal function). However, when combined with the 202A variant (rs1050828) on the same haplotype, it creates the G6PD A- deficiency variant associated with clinically significant hemolytic risk from oxidant drugs. Genotyping both variants together is necessary for accurate G6PD phenotype prediction.

Suzuki K et al. “Regional air pollution caused by dioxins from numerous emission sources: lessons from a domestic experience in Japan.” Bulletin of Environmental Contamination and Toxicology 89(2):368-375 (2012)
Allele G
OR —
p —
Candidate gene study
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ClinVar annotation

Conflicting Classifications
33 submitters93 publications

G6PD A+; not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD deficiency; Anemia, nonspherocytic hemolytic, due to G6PD deficiency;Malaria, susceptibility to; not specified; G6PD deficiency;Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Inborn genetic diseases; Glomerulopathy with fibronectin deposits 2

View on ClinVar →
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Research that mentions this SNP (1)

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Genetic polymorphisms in oxidative stress‐related genes are associated with outcomes following treatment for aggressive B‐cell non‐Hodgkin lymphoma
AssociationN=909Heather L. Gustafson et al.(2014)· American Journal of Hematology

Genetic polymorphisms in oxidative stress-related genes were associated with treatment outcomes in aggressive B-cell non-Hodgkin lymphoma. In discovery (n=337) and validation (n=572) cohorts, rare homozygotes for MPO rs2243828 (HR=1.87, P=0.013) and AKR1C3 rs10508293 (HR=2.09, P=0.0032) were associated with increased risk of progression, while NCF4 rs1883112 rare homozygotes showed protective effects against progression (HR=0.66, P=0.06 discovery; HR=0.66, P=0.05 validation). Meta-analysis confirmed NCF4 association with improved survival outcomes (HR=0.66, P<0.01).

Traits studied:Aggressive B-cell non-Hodgkin lymphomaDiffuse large B-cell lymphoma (DLBCL)Hematologic toxicityOverall survivalProgression-free survival
PubMedDOIMetascience Observatory

Gene information from NCBI Gene. Variant classifications from ClinVar.

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