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Sensitive

G6PD deficiency (G6PD A+ / A- component)

G6PD · rs1050829

Where this position leads

Condition: G6PD Deficiency

Drugs: Dapsone, nitrofurantoin and other oxidising drugs, Primaquine and tafenoquine, Rasburicase

rs1050829 Condition: G6PD Deficiency G6PD Deficiency Condition Drug: Dapsone, nitrofurantoin and other oxidising drugs Dapsone, nitrofurantoin and other o… Drug Drug: Primaquine and tafenoquine Primaquine and tafenoquine Drug Drug: Rasburicase Rasburicase Drug rs1050829 rs1050829 G6PD

What each result means

C/C Two copies of the variant allele, or one copy in a male. What this means depends on whether rs1050828 is also present: together they make the A- allele, which is deficient. Alone this is the A+ allele, which is not.
T/C One copy of the variant allele. This position defines the A+ allele on its own, which has near-normal activity; it becomes the deficient A- allele only when it travels together with rs1050828. Read one without the other and the answer is incomplete.
T/T The reference base at this position.
This position is only interpretable alongside rs1050828. Neither is a substitute for measuring enzyme activity.
Source
Expanded Clinical Pharmacogenetics Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype
Gammal RS, Pirmohamed M, Somogyi AA, Morris SA, Formea CM, Elchynski AL, Oshikoya KA, McLeod HL, Haidar CE, Whirl-Carrillo M, Klein TE, Caudle KE
and 1 more — show all
Relling MV
Clinical pharmacology and therapeutics · 2023 · PMID 36049896

Questions about rs1050829

What is rs1050829?

rs1050829 is a single position in the genome, in or near the G6PD gene. Published research associates it with g6pd deficiency (g6pd a+ / a- component). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1050829 linked to?

On MyGeneLog this position is linked to G6PD Deficiency. The research behind each link, and its sources, are set out on that condition page.

Does rs1050829 affect how medicines work?

G6PD carries pharmacogenomic findings for Dapsone, nitrofurantoin and other oxidising drugs, Primaquine and tafenoquine, Rasburicase. That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.

Does having rs1050829 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs1050829 come from?

CPIC Guideline for G6PD Genotype and Medication Use (Clin Pharmacol Ther 2023, PMID 36049896). Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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