rs137852330
A SNP in the G6PD gene on chromosome X. Its most notable genotype is A;A: G6PD deficiency
- Gene
- G6PD
- Location
- Chr X154,534,390 (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 rs137852330 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
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 190 words
Known as G6PD Coimbra and also as Arg198Cys or R198C, rs137852330 represents a variant in the G6PD gene, located on the X chromosome. On its own, the minor allele of this SNP has been reported to be similar to G6PD Mediterranean, in a patient who exhibited favism (i.e. hemolytic anemia after a specific trigger, such as aspirin or eating fava beans), according to citations in OMIM. This variant has also been described as one of three variants defining a unique null G6PD allele in a patient with chronic granuloma and hemolytic anemia. The three changes defining this allele were c.317C>G, c.544C>T, and c.592C>T, leading to protein changes Ser106Cys, Arg182Trp and Arg198Cys, represented by SNPs rs267606835, rs267606836 and rs137852330, respectively. It is not known if these other changes would be pathogenic on their own. 23andMe name: i5008440
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 rs137852330 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.