rs5030868 G6PD
Normal G6PD function at Mediterranean variant position.
What is rs5030868?
rs5030868 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 GG. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.
What does each rs5030868 genotype mean?
| Genotype | Association | What the evidence says | Confidence |
|---|---|---|---|
| GG | typical | Normal G6PD function at Mediterranean variant position. | 90% |
| GA | increased | G6PD Mediterranean variant carrier. Severe G6PD deficiency. Rasburicase, primaquine, dapsone contraindicated. | 90% |
| AA | increased | G6PD Mediterranean variant homozygous/hemizygous. Severe G6PD deficiency. | 90% |
Is rs5030868 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
Upload your 23andMe, AncestryDNA or WeGene raw file → · Ask G2: “What is my genotype at rs5030868 and what does it mean for me?”
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.