rs398123546
A SNP in the G6PD gene on chromosome X. Its most notable genotype is A;A: G6PD deficiency
- Gene
- G6PD
- Location
- Chr X154,532,390 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GBadCarrier of G6PD deficiency mutation; variable expressivity
- A;AMost notableBadG6PD deficiency
SNPedia records rs398123546 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
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
- rs76723693G;GG6PD deficiency; Hb1Ac value may need adjusting for diabetes diagnosisVery important
- rs78365220G;GG6PD deficiencyVery important
Notes
From SNPedia
Notes
aka c.1360C>T, c.1450C>T (p.Arg484Cys or R484C)
A;G
Carrier but likely to be asymptomatic. However, effects vary in females due to random X chromosome inactivation.
A;A
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.
Source and license
Adapted from rs398123546 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.