rs267606835
A SNP in the G6PD gene on chromosome X. Its most notable genotype is C;G: Carrier of G6PD deficiency mutation; variable expressivity
- Gene
- G6PD
- Location
- Chr X154,535,336 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- Not on consumer chips
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- C;GMost notableBadCarrier of G6PD deficiency mutation; variable expressivity
- C;CNot ratedLikely miscall in LivingDNA data
SNPedia records rs267606835 on the minus strand: (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
Notes
From SNPedia
Show notes, about 140 words
rs267606835, also known as c.407C>G, p.Ser136Cys, S136C and also Ser106Cys, is a variant in the G6PD gene, located on the X chromosome. This variant has 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; the corresponding SNPs are rs267606835, rs267606836 and rs137852330, respectively. It is not known if the minor alleles of rs267606835 or rs267606836 would be pathogenic on their own (in the absence of these other changes); rs137852330 has been reported as associated with a form of favism. 23andMe name: i5008441
C;G
Carrier but likely to be asymptomatic. However, effects vary in females due to random X chromosome inactivation.
Source and license
Adapted from rs267606835 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.