rs137852318
A SNP in the G6PD gene on chromosome X. Its most notable genotype is G;G: G6PD deficiency
- Gene
- G6PD
- Location
- Chr X154,533,596 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GMost notableBadG6PD deficiency
- C;GBadCarrier of G6PD deficiency mutation; variable expressivity
- C;CGoodcommon in clinvar
- A;CBadCarrier of G6PD deficiency mutation; variable expressivity
- A;ABadG6PD deficiency
SNPedia records rs137852318 on the minus strand: (C;C), (C;G), (G;G), (G;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 220 words
Known as G6PD Seattle-like and also G6PD Modena, the cDNA minor allele (C on the reverse strand) should be reclassified as benign according to , apparently based on overly high "frequency in the general population", without any specific evidence cited. However, at least in one large population database (ExAC), the frequency of this minor allele appears to be very low (0.00084, based on 73 alleles observed in ~87,000 sequenced). Overall, while the minor allele is reported to lead to a mild phenotype, for the moment it continues to be reported in ClinVar, OMIM and here as a pathogenic variant. Additional terms for this variant include c.934G>C, p.Asp312His, Asp282His, D312H, and D282H. 23andMe name (for the C>A variant): i6010520
G;G
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.
C;G
Carrier but likely to be asymptomatic. However, effects vary in females due to random X chromosome inactivation.
A;C
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 rs137852318 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.