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G6PD

From SNPedia

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ClinVarG6PD
GeneCardsG6PD
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MyGene2G6PD
23andMeG6PD
# SNPs95
 Max MagnitudeChromosome positionSummary
i3003411
i5008420
i5008421
i5008423
i5008428
i5008429
i5008430
i5008433
i5008436
i5008440
i5008443
i5008445
i5008446
i5008448
i5008454
i5008455
i5008456
i5008458
i5008459
i5008462
i5008463
i5012739
i5053909
i6010512
i6010520
i6010578
i6010585
i6010588
i6010592
i6010627
i6010641
i6010663
rs10507570154,531,643
rs10508284154,536,002
rs10508292.2154,535,277
rs111485003154,531,696
rs112950723154,531,728
rs1378523135154,535,187
rs1378523145154,534,495
rs1378523155154,536,032
rs1378523165154,532,676
rs1378523175154,532,411
rs1378523185154,533,596
rs1378523195154,534,157
rs1378523205154,532,698
rs1378523215154,532,694
rs1378523225154,532,701
rs1378523235154,532,626
rs1378523245154,532,389
rs1378523250154,532,662
... further results

The G6PD gene, located on the X chromosome, the encodes glucose-6-phosphate dehydrogenase enzyme. Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency), also known as favism (after the fava bean), is an X-linked recessive inborn error of metabolism that predisposes to hemolysis (spontaneous destruction of red blood cells) and resultant jaundice in response to a number of triggers, such as certain foods, illness, or medication. Most individuals with G6PD deficiency are asymptomatic; symptomatic patients are almost exclusively male, due to the X-linked pattern of inheritance. Wikipedia

Two variants (G6PD A−/rs1050828 and G6PD Mediterranean/rs5030868) are the most common in human populations. G6PD A− has an occurrence of 10% of Africans and African-Americans while G6PD Mediterranean is prevalent in the Middle East. The known distribution of the mutated allele is largely limited to people of Mediterranean origins (Spaniards, Italians, Greeks, Armenians, Sephardi Jews and other Semitic peoples). Both variants are believed to stem from a strongly protective effect against malaria.Wikipedia

The World Health Organization classifies G6PD genetic variants into five classes, the first three of which are deficiency states:

  • Class I: Severe deficiency (<10% activity) with chronic (nonspherocytic) hemolytic anemia
  • Class II: Severe deficiency (<10% activity), with intermittent hemolysis
  • Class III: Mild deficiency (10-60% activity), hemolysis with stressors only
  • Class IV: Non-deficient variant, no clinical sequelae
  • Class V: Increased enzyme activity, no clinical sequelae


Many substances are potentially harmful to people with G6PD deficiency. Variation in response to these substances makes individual predictions difficult. Antimalarial drugs that can cause acute hemolysis in people with G6PD deficiency include primaquine, pamaquine, and chloroquine. There is evidence that other antimalarials may also exacerbate G6PD deficiency, but only at higher doses. Sulfonamides (such as sulfanilamide, sulfamethoxazole, and mafenide), thiazolesulfone, methylene blue, and naphthalene should also be avoided by people with G6PD deficiency as they antagonize folate synthesis, as should certain analgesics (such as phenazopyridine and acetanilide) and a few non-sulfa antibiotics (nalidixic acid, nitrofurantoin, isoniazid, dapsone, and furazolidone) as well as glipizide. Many of these drugs are labelled with precautions by the FDA.Wikipedia

Based on the table shown below, genosets gs309, gs307 and gs308 detect the presence of zero, at least one, or two class I, II and III mutations in data uploaded to Promethease, respectively.

The following table lists the G6PD variants with rs-ids known to be from WHO (functional) classes I, II and III as defined above. Males should be considered at risk when carrying only of these classes of variants. However, due in particular to variable and random X chromosome inactivation, determining whether a heterozygous female is at increased risk of drug-induced hemolytic anemia is not possible without measuring G6PD activity.[PMID 24787449OA-icon.png],[PMID 22293322]


rsid 23andMe term synonyms (old,new numbering) Class OMIM On chip?
rs137852348 i5008462 c.1442C>G (p.Pro481Arg); c.1532C>G (p.Pro511Arg) III 305900.0060 Ancestry v2
rs137852344 i5008458 c.1400C>G (p.Pro467Arg); c.1490C>G (p.Pro497Arg) III 305900.0050 Ancestry v2
rs72554664 c.1388G>A (p.Arg463His); c.1478G>A (p.Arg493His) II 305900.0029 23andMe v3, 23andMe v4, Ancestry v2, 23andMe v5
rs72554665 i5012739 c.1376G>T (p.Arg459Leu); c.1466G>T (p.Arg489Leu) II 305900.0021
rs72554665 c.1376G>C (p.Arg459Pro); c.1466G>C (p.Arg489Pro) II 305900.0059
rs137852324 i5008433 c.1361G>A (p.Arg454His); c.1451G>A (p.Arg484His) II 305900.0020 Ancestry v2
rs137852317 i6010588 c.1339G>A (p.Gly447Arg); c.1429G>A (p.Gly477Arg) I 305900.0009 Ancestry v2
rs137852337 c.1316G>C (p.Arg439Pro); c.1406G>C (p.Arg469Pro) II 305900.0040 Ancestry v2
rs137852336 i5008448 c.1229G>A (p.Gly410Asp); c.1319G>A (p.Gly440Asp) I 305900.0039 Ancestry v2
rs137852336 c.1229G>C (p.Gly410Ala); c.1319G>C (p.Gly440Ala) I Ancestry v2
rs137852323 i6010641 c.1288G>T (p.Gly410Cys); c.1318G>T (p.Gly440Cys) I 305900.0015 Ancestry v2
rs137852335 i6010592 c.1180G>C (p.Val394Leu); c.1270G>C (p.Val424Leu) I 305900.0038 Ancestry v2
rs137852316 i5008423 c.1178G>A (p.Arg393His); c.1268G>A (p.Arg423His) I 305900.0008 Ancestry v2
rs137852321 i5008429 c.1160G>A (p.Arg387His); c.1250G>A (p.Arg417His) I 305900.0013 Ancestry v2
rs137852334 i5008446 c.1159C>T (p.Arg387Cys); c.1249C>T (p.Arg417Cys) I 305900.0037 Ancestry v2
rs137852320 i5008428 c.1156A>G (p.Lys386Glu); c.1246A>G (p.Lys416Glu) I 305900.0012 Ancestry v2
rs137852322 i5008430 c.1353T>C (p.Cys385Arg); c.1243T>C (p.Cys415Arg) I 305900.0014 Ancestry v2
rs387906468 c.1102G>A (p.Glu368Lys); c.1192G>A (p.Glu398Lys) I 305900.0022 Ancestry v2
rs137852329 i6010512 c.1089C>A (p.Asn363Lys); c.1179C>A (p.Asn393Lys) I 305900.0030 Ancestry v2
rs137852329 c.1089C>G (p.Asn363Lys); c.1179C>G (p.Asn393Lys) I Ancestry v2
rs137852345 i5008459 c.1082C>T (p.Ala361Val); c.1172C>T (p.Ala391Val) I 305900.0051 Ancestry v2
rs137852333 i5008445 c.1057C>T (p.Pro353Ser); c.1147C>T (p.Pro383Ser) II 305900.0036 Ancestry v2
rs137852342 i5008454 c.1024C>T (p.Leu342Phe); c.1114C>T (p.Leu372Phe) III 305900.0046 Ancestry v2
rs137852347 c.964T>C (p.Tyr322His); c.1054T>C (p.Tyr352His) I 305900.0055 23andMe v5
rs137852327 i5008436 c.871G>A (p.Val291Met); c.961G>A (p.Val321Met) II 305900.0026 Ancestry v2
rs74575103 i5053909 c.854G>A (p.Arg285His); c.944G>A (p.Arg315His) III 305900.0016 Ancestry v2
rs137852318 c.844G>C (p.Asp282His); c.934G>C (p.Asp312His) III 305900.0010 Ancestry v2
rs137852318 i6010520 c.845G>T (p.Asp282Tyr); c.934G>T (p.Asp312Tyr) III Ancestry v2
rs137852346 i6010663 c.806G>A (p.Cys269Tyr); c.896G>A (p.Cys299Tyr) I 305900.0053 Ancestry v2
rs137852328 i6010585 c.680G>A (p.Arg227Gln); c.770G>A (p.Arg257Gln) III 305900.0035
rs137852319 c.648T>G (p.Phe216Leu); c.738T>G (p.Phe246Leu) I 305900.0011 Ancestry v2
rs137852326 c.637G>T (p.Val213Leu); c.727G>T (p.Val243Leu) I 305900.0024 Ancestry v2
rs137852332 c.593G>C (p.Arg198Pro); c.683G>C (p.Arg228Pro) I 305900.0034
rs137852332 i6010578 c.593G>A (p.Arg198His); c.683G>A (p.Arg228His) II 305900.0062
rs137852330 i5008440 c.592C>T (p.Arg198Cys); c.682C>T (p.Arg228Cys) II 305900.0031 Ancestry v2
rs5030868 c.563C>T (p.Ser188Phe); c.653C>T (p.Ser218Phe) II 305900.0006 23andMe v2, 23andMe v3, 23andMe v4, Ancestry v2, 23andMe v5
rs5030872 c.542A>T (p.Asp181Val); c.632A>T (p.Asp211Val) III 305900.0023 Ancestry v2
rs137852343 i5008456 c.517T>C (p.Phe133Leu); c.607T>C (p.Phe203Leu) II 305900.0048 Ancestry v2
rs137852331 i5008443 c.493A>G (p.Asn165Asp); c.583A>G (p.Asn195Asp) II 305900.0033 Ancestry v2
rs137852314 i5008421 c.487G>A (p.Gly163Ser); c.577G>A (p.Gly193Ser) III 305900.0005 Ancestry v2
rs137852313 i5008420 c.466G>A (p.Glu156Lys); c.556G>A (p.Glu186Lys) III 305900.0004 Ancestry v2
rs137852341 c.392G>T (p.Gly131Val); c.482G>T (p.Gly161Val) III 305900.0045 Ancestry v2
rs137852349 i5008463 c.208T>C (p.Tyr70His); c.298T>C (p.Tyr100His) II 305900.0061 Ancestry v2
rs1050828 c.202G>A (p.Val68Met); c.292G>A (p.Val98Met) III 305900.0002 23andMe v1, 23andMe v2, 23andMe v3, Affy GenomeWide 6, FTDNA2, FamilyTreeDNA, Illumina Human 1M, 23andMe v4, Ancestry v2, 23andMe v5
rs137852315 i6010627 c.172G>A (p.Asp58Asn); c.262G>A (p.Asp88Asn) III 305900.0007 Ancestry v2
rs76645461 c.143T>C (p.Ile48Thr); c.233T>C (p.Ile78Thr) III 305900.0043 23andMe v5
rs78478128 i5008455 c.131C>G (p.Ala44Gly); c.221C>G (p.Ala74Gly) III 305900.0047 Ancestry v2
rs137852340 i5008452 c.95A>G (p.His32Arg); c.185A>G (p.His62Arg) III 305900.0044 Ancestry v2
rs5030869 i3003411 c.1003G>A (p.Ala335Thr); c.1093G>A (p.Ala365Thr) II 305900.0003 Ancestry v2
rs137852338 c.103_105delATC (p.Ile35del); c.193_195delATC (p.Ile66del) I 305900.0041