rs78478128
A SNP in the G6PD gene on chromosome X. Its most notable genotype is C;C: G6PD deficiency
- Gene
- G6PD
- Location
- Chr X154,536,168 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadG6PD deficiency
- C;GBadCarrier of G6PD deficiency mutation; variable expressivity
- G;GGoodcommon in clinvar
On SNPedia: (C;C), (C;G), (G;G). 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
Genosets
- Gs308G6PD Deficiency likely based on detection of homozygous/hemizygous mutation(s).Very important
- Gs307One or more G6PD deficiency-associated mutations detected in uploaded data.Important
Genosets combine several genotypes. Twofold checks them in your report.
Notes
From SNPedia
Notes
aka c.221C>G, p.Ala74Gly and A74G; G6PD Orissa (found originally in certain tribal populations in India) 23andMe name: i5008455
C;C
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.
C;G
Carrier but likely to be asymptomatic. However, effects vary in females due to random X chromosome inactivation.
Source and license
Adapted from rs78478128 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.