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.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. C;GMost notableBadCarrier of G6PD deficiency mutation; variable expressivityImportant · 3.0
  3. C;CNot ratedLikely miscall in LivingDNA dataMinor · 1.0

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.

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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.