rs76723693
A SNP in the G6PD gene on chromosome X. Its most notable genotype is G;G: G6PD deficiency; Hb1Ac value may need adjusting for diabetes diagnosis
- Gene
- G6PD
- Location
- Chr X154,533,025 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GMost notableBadG6PD deficiency; Hb1Ac value may need adjusting for diabetes diagnosis
- A;GBadCarrier of G6PD deficiency mutation; variable expressivity; Hb1Ac value may need adjusting for diabetes diagnosis
- A;AGoodcommon in clinvar
SNPedia records rs76723693 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other G6PD SNPs
- rs5030868A;AHomozygous/Hemizygous mutantVery important
- rs5030869T;TG6PD deficiencyVery important
- rs5030872A;AG6PD deficiencyVery important
- rs72554664T;TG6PD deficiencyVery important
- rs72554665G;GG6PD deficiencyVery important
- rs76645461G;GG6PD deficiencyVery important
- rs78365220G;GG6PD deficiencyVery important
- rs78478128C;CG6PD deficiencyVery important
Notes
From SNPedia
Show notes, about 120 words
aka c.968T>C, c.1058T>C, (p.Leu323Pro or L323P) A 2019 publication reports that this variant also has the effect of lowering HbA1c values by ~0.98%-units in hemizygous men and 0.46%-units in heterozygous women. The authors suggest that when using Hb1Ac values to diagnose type-2 diabetes, those units should be added to the measured Hb1Ac level, and a diagnosis should then be made if the sum is >6.5% (the standard diagnostic threshold).
G;G
Even if asymptomatic, consider being tested for G6PD deficiency and be aware of hemolytic anemia potential when taking certain drugs. See G6PD gene page for more information.
A;G
Carrier but likely to be asymptomatic. However, effects vary in females due to random X chromosome inactivation.
Source and license
Adapted from rs76723693 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.