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Primary topic: G6PD deficiency metabolism

G6PD Gene and Metabolism: What It Means for Your Body

G6PD is central to redox defense because it supports NADPH generation, which cells use to maintain antioxidant capacity.

What is the G6PD gene?

G6PD helps produce NADPH through the pentose phosphate pathway. NADPH is needed to keep glutathione and other antioxidant systems functioning, especially in red blood cells.

How G6PD affects metabolism

If G6PD-related capacity is lower, oxidative stress buffering can weaken under strain. That matters for redox resilience, recovery, and tolerance to specific oxidative triggers.

What happens when G6PD is altered

Altered G6PD function can be clinically significant in some contexts. Even milder variation can still make oxidative-load management more important than usual.

Curated SNP evidence for G6PD

These SNPs come from the approved study-level evidence model. Each claim is scored from curated study rows, then gated before it can influence pathway scoring.

Oxidative stress

Evidence-backed report connection

G6PD currently has 3 curated SNPs, 7 claim-level scores, and 3 claims eligible for pathway scoring.

Open the sample report
rs1050828G6PD deficiency signal3 claims · 9 study rows

enzyme activity · TT

G6PD enzyme activity

Strong

rs1050828 TT is associated with reduced G6PD enzyme activity.

G6PD rs1050828 is scored as a lower G6PD enzyme-activity tendency for T-containing genotypes, strongest for TT and intermediate for CT.

Likely effectLower enzyme activity signal
Signal sizeLarge signal
Evidence supportModerate support
Report useIncluded in pathway scoring
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs1050828 in G6PD. In the G6PD transcript annotation, C corresponds to the usual Val form at this position and T corresponds to the Met form of the c.202G>A variant.PMC4236593functional assay · directA Kenyan fine-mapping study of erythrocyte G6PD activity found that c.202G>A, rs1050828, accounted for most observed activity variation. The authors reported a strong association with lower enzyme activity, supporting a stronger negative score for two-copy variant status than for one-copy status.PubMed 36145477review · close proxyA systematic review and meta-analysis reported low G6PD activity for the A- haplotype that includes c.202G>A and c.376A>G, with lower median activity in hemi- or homozygous carriers than in heterozygotes. This supports a stronger negative score for TT than CT while keeping clinical interpretation cautious.

enzyme activity · CT

G6PD enzyme activity

Moderate

rs1050828 CT is associated with reduced G6PD enzyme activity.

G6PD rs1050828 is scored as a lower G6PD enzyme-activity tendency for T-containing genotypes, strongest for TT and intermediate for CT.

Likely effectLower enzyme activity signal
Signal sizeSmall signal
Evidence supportModerate support
Report useIncluded in pathway scoring
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs1050828 in G6PD. In the G6PD transcript annotation, C corresponds to the usual Val form at this position and T corresponds to the Met form of the c.202G>A variant.PMC4236593functional assay · directA Kenyan fine-mapping study of erythrocyte G6PD activity found that c.202G>A, rs1050828, accounted for most observed activity variation. The authors reported a strong association with lower enzyme activity, supporting a stronger negative score for two-copy variant status than for one-copy status.PubMed 36145477review · close proxyA systematic review and meta-analysis reported low G6PD activity for the A- haplotype that includes c.202G>A and c.376A>G, with lower median activity in hemi- or homozygous carriers than in heterozygotes. This supports a stronger negative score for TT than CT while keeping clinical interpretation cautious.

enzyme activity · CC

G6PD enzyme activity

Not used for pathway scoring

rs1050828 CC has no scored directional claim for G6PD enzyme activity.

G6PD rs1050828 is scored as a lower G6PD enzyme-activity tendency for T-containing genotypes, strongest for TT and intermediate for CT.

Likely effectNo clear enzyme signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs1050828 in G6PD. In the G6PD transcript annotation, C corresponds to the usual Val form at this position and T corresponds to the Met form of the c.202G>A variant.PMC4236593functional assay · directA Kenyan fine-mapping study of erythrocyte G6PD activity found that c.202G>A, rs1050828, accounted for most observed activity variation. The authors reported a strong association with lower enzyme activity, supporting a stronger negative score for two-copy variant status than for one-copy status.PubMed 36145477review · close proxyA systematic review and meta-analysis reported low G6PD activity for the A- haplotype that includes c.202G>A and c.376A>G, with lower median activity in hemi- or homozygous carriers than in heterozygotes. This supports a stronger negative score for TT than CT while keeping clinical interpretation cautious.
rs1050829G6PD supporting signal3 claims · 9 study rows

unknown · CC

G6PD unscored target

Not used for pathway scoring

rs1050829 CC has no scored directional claim for G6PD unscored target.

G6PD rs1050829 is not scored as a standalone enzyme-activity change in this simplified file; it is mainly useful as context for G6PD haplotypes such as A-.

Likely effectNo clear DNA signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs1050829 in G6PD. In the G6PD transcript annotation, T corresponds to the usual Asn form at this position and C corresponds to the Asp form of the c.376A>G variant.PMC4236593other · loose proxyThe Kenyan fine-mapping study found that rs1050828, not rs1050829 alone, explained most G6PD activity variation. The authors described c.376A>G, rs1050829, as an independent significant variant and as context for G6PD activity interpretation, supporting a cautious standalone direction of zero here.Evidence 3clinical curation · loose proxyThe NCBI Medical Genetics Summaries table lists the G6PD A- variant as a combined c.202G>A and c.376A>G allele. This supports interpreting rs1050829 together with rs1050828 rather than assigning a strong single-SNP activity effect.

unknown · CT

G6PD unscored target

Not used for pathway scoring

rs1050829 CT has no scored directional claim for G6PD unscored target.

G6PD rs1050829 is not scored as a standalone enzyme-activity change in this simplified file; it is mainly useful as context for G6PD haplotypes such as A-.

Likely effectNo clear DNA signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs1050829 in G6PD. In the G6PD transcript annotation, T corresponds to the usual Asn form at this position and C corresponds to the Asp form of the c.376A>G variant.PMC4236593other · loose proxyThe Kenyan fine-mapping study found that rs1050828, not rs1050829 alone, explained most G6PD activity variation. The authors described c.376A>G, rs1050829, as an independent significant variant and as context for G6PD activity interpretation, supporting a cautious standalone direction of zero here.Evidence 3clinical curation · loose proxyThe NCBI Medical Genetics Summaries table lists the G6PD A- variant as a combined c.202G>A and c.376A>G allele. This supports interpreting rs1050829 together with rs1050828 rather than assigning a strong single-SNP activity effect.

unknown · TT

G6PD unscored target

Not used for pathway scoring

rs1050829 TT has no scored directional claim for G6PD unscored target.

G6PD rs1050829 is not scored as a standalone enzyme-activity change in this simplified file; it is mainly useful as context for G6PD haplotypes such as A-.

Likely effectNo clear DNA signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs1050829 in G6PD. In the G6PD transcript annotation, T corresponds to the usual Asn form at this position and C corresponds to the Asp form of the c.376A>G variant.PMC4236593other · loose proxyThe Kenyan fine-mapping study found that rs1050828, not rs1050829 alone, explained most G6PD activity variation. The authors described c.376A>G, rs1050829, as an independent significant variant and as context for G6PD activity interpretation, supporting a cautious standalone direction of zero here.Evidence 3clinical curation · loose proxyThe NCBI Medical Genetics Summaries table lists the G6PD A- variant as a combined c.202G>A and c.376A>G allele. This supports interpreting rs1050829 together with rs1050828 rather than assigning a strong single-SNP activity effect.
rs5030868G6PD Mediterranean Ser188Phe1 claims · 2 study rows

enzyme activity · A

G6PD enzyme activity and NADPH redox reserve

Strong

rs5030868 A, the plus-strand allele corresponding to G6PD Mediterranean c.563C>T / p.Ser188Phe, is associated with lower G6PD enzyme activity and reduced NADPH-linked redox reserve.

G6PD rs5030868 A is staged as a strong lower-function G6PD Mediterranean signal relevant to oxidative-stress reserve.

Likely effectLower enzyme activity signal
Signal sizeLarge signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
ClinVar Variation ID 100057clinical curation · directClinVar maps rs5030868 to the G6PD Mediterranean c.563C>T / p.Ser188Phe variant and records pathogenic or likely pathogenic classifications for G6PD deficiency-related phenotypes.PMCID PMC1683892clinical curation · directThe checked G6PD Mediterranean molecular study describes the Mediterranean phenotype as severe enzyme deficiency and identifies the same c.563C>T change causing the Ser188Phe substitution.

Common symptoms people report

  • fatigue or recovery issues after oxidative stressors
  • sensitivity to certain medications or foods
  • low resilience under infection or high inflammatory load
  • concern about oxidative stress capacity

Biomarkers to validate

G6PD enzyme activity test

Most direct way to confirm clinically meaningful deficiency.

CBC and reticulocyte count when relevant

Adds context where red blood cell stress is a concern.

Glutathione status or oxidative stress markers

Useful for broader redox follow-up.

Where DNA analysis helps

DNA can flag redox pathways that deserve serious validation when oxidative load or sensitivity is part of the picture. It is especially valuable for deciding whether to check direct enzyme activity.

Example Insight

Your antioxidant-support pathway may have less reserve under oxidative challenge.

Suggested validation: G6PD enzyme activity and glutathione status.

What to do next

  • Use formal enzyme testing if there is any concern about meaningful deficiency.
  • Compare G6PD with UGT1A1 and GPX1 when oxidative and clearance issues overlap.
  • Avoid assuming a wellness-only problem when clinical redox issues may be relevant.

Upload your DNA file and receive a structured metabolic pathway analysis with prioritized insights and suggested validation markers.

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