G6PD · rs72554664
Where this position leads
Condition: G6PD Deficiency
Drugs: Dapsone, nitrofurantoin and other oxidising drugs, Primaquine and tafenoquine, Rasburicase
What the study found
Who was studied 69,269 Chinese ancestry females; replicated in up to 20,026 East Asian ancestry females.
The effect Each copy of the T allele shifted the measure 0.797 lower (95% confidence interval 0.73-0.86); p = 5 × 10−125.
Where it sits Chromosome X, band Xq28 — a missense change in G6PD.
What ClinVar records
Classification
Pathogenic for Malaria, susceptibility to, Anemia, nonspherocytic hemolytic, due to G6PD deficiency, G6PD deficiency, Inborn genetic diseases, Type 2 diabetes mellitus and 7 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 28 submitters), last evaluated 2026-02-01.
ClinVar record 100059 NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
Classification
Pathogenic for Anemia, nonspherocytic hemolytic, due to G6PD deficiency; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-09-30.
ClinVar record 2504081 NM_001360016.2(G6PD):c.1388G>T (p.Arg463Leu)
What this is ClinVar's aggregate record for this position (as of its 2026-10-12 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.
2026-07-27 · Liu S, et al., Nature Genetics 2026, PMID:42509370
Genome-wide association analyses of gestational phenotypes identify context-specific genetic effects
A pregnancy lasts about 40 weeks, and the body's measurements change all the way through it. This study analysed 111 of them — blood counts, blood proteins, blood sugar — in up to 121,579 Chinese pregnancies and found 4,688 independent signals, 1,703 of them new. For 7.8% of variants across 30 phenotypes the effect was specific to pregnancy, and 18.7% of the signals for 24 blood traits changed with the stage of pregnancy, across five periods before and after birth. The changing effects gathered in pathways that regulate growth and hormones. A comparison with 80 diseases and medication traits in women of BioBank Japan pointed to links between measurements in pregnancy and health later in life. 86 of the study's positions are already on this site, 34 of them on the blood cell counts page, including rs1354034 (ARHGEF3) and rs72554664 (G6PD), which the study reports for glycated haemoglobin in pregnancy. PMID:42509370.
rs72554664 is a single position in the genome, in or near the G6PD gene. Published research associates it with glycated hemoglobin levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to G6PD Deficiency. The research behind each link, and its sources, are set out on that condition page.
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.
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.
GWAS Catalog, Nature communications 2025, PMID:40325049. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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.
Glycated hemoglobin levels (rs72554664). MyGeneLog™. https://www.mygenelog.com/variants/rs72554664