rs5030868
A SNP in the G6PD gene on chromosome X. Its most notable genotype is A;A: Homozygous/Hemizygous mutant
- Gene
- G6PD
- Location
- Chr X154,534,419 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;GGoodNo summary available.
- -;GGoodNo summary available.
- G;GGoodcommon in clinvar
- A;GBadG6PD Heterozygous
- A;AMost notableBadHomozygous/Hemizygous mutant
SNPedia records rs5030868 on the minus strand: (-;C), (C;-), (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
- 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
- rs78478128C;CG6PD 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
Show notes, about 250 words
aka c.653C>T (p.Ser218Phe or S218F) rs5030868, also known as c.653C>T, p.Ser218Phe and S218F, is a SNP located on the X-Chromosome and associated with moderate to severe Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency. Often referred to as the “Mediterranean variant”, the 563C->T mutation encodes a non-synonymous Serine to Phenylalanine substitution at Amino Acid position 188 (S188F) resulting in reduced catalytic efficiency and stability G6PD . In red blood cells, G6PD acts as the primary electron source for reactions that neutralize reactive oxygen species; thus the red blood cells of G6PD deficient individuals are especially susceptible to damage from oxidative stress . The Mediterranean variant of G6PD has been associated with acute hemolytic anemia induced by the ingestion of fava beans, glibenclamide, primaquine, dapsone, and Aspirin among others. Hemizygous males and homozygous females exhibit moderate to severe symptoms of G6PD deficiency, while heterozygous females may exhibit symptoms to varying degrees due to random inactivation of X-Chromosomes. This Mediterranean variant is primarily found in individuals with Mediterranean or Middle Eastern ancestry. It is suspected to be protective against malaria and to have been under positive selection in the past . See also OMIM 305900.0006
A;G
Highly variable phenotype due to random X-chromosome silencing in females.
A;A
Type II G6PD deficiency. <10% wildtype G6PD Activity. Oxidative stress induces acute hemolytic anemia.
Source and license
Adapted from rs5030868 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.