Standard

Hemoglobin levels

G6PD · rs5030868

Where this position leads

Conditions: Blood Cell Counts, G6PD Deficiency

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

What the study found

Who was studied 6,602 Sardinian founder individuals; replicated in 4,131 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.126 g/dl lower (95% confidence interval 0.088-0.163); p = 3 × 10⁻¹¹.

How common The A allele had a frequency of about 8% in the people studied.

Where it sits Chromosome X, band Xq28 — a missense change in G6PD.

What ClinVar records

Classification Pathogenic/Likely pathogenic for G6PD MEDITERRANEAN, G6PD CAGLIARI, G6PD SASSARI, Anemia, nonspherocytic hemolytic, due to G6PD deficiency, G6PD deficiency and 7 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 65 submitters), last evaluated 2026-07-07. ClinVar record 100057 NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A Two copies of the version the research linked to Hemoglobin levels. That is the strongest link of the three results. A link in a study is not a diagnosis.

A/G One copy of the version the research linked to Hemoglobin levels. That is a smaller link than two copies.

G/G No copy of the version the research linked to Hemoglobin levels. This is the starting point the study compared everyone against.

Source

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels

Danjou F, Zoledziewska M, Sidore C, Steri M, Busonero F, Maschio A, Mulas A, Perseu L, Barella S, Porcu E, Pistis G, Pitzalis M

and 14 more — show all

Pala M, Menzel S, Metrustry S, Spector TD, Leoni L, Angius A, Uda M, Moi P, Thein SL, Galanello R, Abecasis GR, Schlessinger D, Sanna S, Cucca F

Nature genetics · 2015 · PMID 26366553 · open access

Questions about rs5030868

What is rs5030868?

rs5030868 is a single position in the genome, in or near the G6PD gene. Published research associates it with hemoglobin levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs5030868 linked to?

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

Does rs5030868 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 rs5030868 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 rs5030868 come from?

GWAS Catalog, Nat Genet 2015, PMID:26366553. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Hemoglobin levels (rs5030868). MyGeneLog™. https://www.mygenelog.com/variants/rs5030868

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