rs137852340
A SNP in the G6PD gene on chromosome X. Its most notable genotype is C;C: G6PD deficiency
- Gene
- G6PD
- Location
- Chr X154,546,061 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TGoodcommon in clinvar
- C;TBadCarrier of G6PD deficiency mutation; variable expressivity
- C;CMost notableBadG6PD deficiency
SNPedia records rs137852340 on the minus strand: (A;A), (A;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
Show notes, about 250 words
According to OMIM http://omim.org/entry/305900 .0044 G6PD GAOHE G6PD, HIS32ARG dbSNP:rs137852340 RCV000011146 This G6PD variant was described by Du et al. (1985). Its biochemical characterization was reviewed by Chiu et al. (1993), who demonstrated that the mutant is frequent in Chinese and consists of a change in cDNA nucleotide 95 from A to G (his to arg). rs137852340 aka A95G mutation is on exon 2 （Numbering of the human G6PD gene sequence is from the GeneBank accession no. X55448.） According to ExAct database G is a rare mutation with frequency of 0.014% (12 / 87485); Five common mutations, namely A95G, G871A, C1024T, G1376T, and G1388A, with a minimum frequency of 5%, for each, accounted for approximately 80% of all G6PD mutations among Chinese Han, e.g. 8.8% A95G among Shanghai G6PD deficiency samples (1). References: 1. Rapid and Reliable Detection of Glucose-6-Phosphate Dehydrogenase (G6PD) Gene Mutations in Han Chinese Using High-Resolution Melting Analysis Jing-bin Yan,*† Hong-ping Xu,‡ Can Xiong,*† Zhao-rui Ren,*† Guo-li Tian,‡ Fanyi Zeng,*†§* and Shu-zhen Huang J Mol Diagn. 2010 May; 12(3): 305–311. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860466/ 23andMe name: i5008452
C;T
Carrier but likely to be asymptomatic. However, effects vary in females due to random X chromosome inactivation.
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.
Source and license
Adapted from rs137852340 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.