{{Rsnum
|rsid=1050828
|Gene=G6PD
|Chromosome=X
|position=154536002
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.04293
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=G6PD
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 14.3 | 16.3 | 69.4
| ASW | 3.5 | 17.5 | 78.9
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 8.2 | 15.5 | 76.4
| MEX | 0.0 | 1.8 | 98.2
| MKK | 0.6 | 1.3 | 98.1
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{omim
|desc=G6PD A-
|id=305900
|rsnum=1050828
|variant=0002
}}
{{omim
|desc=G6PD ASAHI
|id=305900
|rsnum=1050828
|variant=0054
}}

{{ neighbor
| rsid = 1050829
| distance = 725
}}

{{PharmGKB
|RSID=rs1050828
|Name_s=G6PD (A-), G6PD:202G>A
|Gene_s=G6PD
|Feature=
|Evidence=PubMed ID:19112496
|Annotation=In a study of pediatric malaria treatments in Africa, patients with G6PD deficiency, as assessed by the G6PD:202G>A variant, showed a higher risk of severe anemia following treatment with chlorproguanil-dapsone plus artesunate.
|Drugs=dapsone
|Drug Classes=
|Diseases=Anemia
|Curation Level=Curated
|PharmGKB Accession ID=PA163522196
}}

{{PharmGKB
|RSID=rs1050828
|Name_s=G6PD:202G>A; part of G6PD A-
|Gene_s=G6PD
|Feature=
|Evidence=PubMed ID:16356170; PubMed ID:17223593; PubMed ID:8754258
|Annotation=The primary diagnostic SNP for the A- phenotype which causes G6PD deficiency in many parts of Africa.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145075
}}

{{ClinVar
|rsid=1050828
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=153764217
|CHROM=X
|GMAF=0.0427969
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x050368000000150517130100
|GENEINFO=G6PD:2539
|GENE_NAME=G6PD
|GENE_ID=2539
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.153764217C>T
|CLNORIGIN=1
|CLNSIG=255
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.9571; 0.04293
|CLNACC=RCV000011074.5; RCV000011075.4; RCV000011076.4; RCV000011077.4; RCV000011078.4; RCV000011079.4; RCV000011157.2; RCV000079404.1
|CLNDBN=G6pd a-; G6PD MATERA; G6PD BETICA; G6PD CASTILLA; G6PD DISTRITO FEDERAL; G6PD TEPIC; G6PD ASAHI; not provided
|CLNDSDB=MedGen
|CLNDSDBID=CN069445
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNSRCID=555; 305900.0002; 305900.0054
|COMMON=1
|Disease=G6pd a-; G6PD MATERA; G6PD BETICA; G6PD CASTILLA; G6PD DISTRITO FEDERAL; G6PD TEPIC; G6PD ASAHI; not provided
}}
rs1050828 is a SNP residing in the [[G6PD]] gene and is located the X chromosome. G6PD codes for the enzyme [[glucose-6-phosphate dehydrogenase]], which helps protect the cell from oxidative damage. Depending on genotype, an individual may possess one of two primary versions of the G6PD gene; type A and type B. Type A is predominantly found in people who have African ancestry. Mutations of G6PD can cause varying degrees of [[G6PD deficiency]], which is a disease affecting red blood cells. For example, an G to A substitution mutation at the rs1050828 (also referred to as G202A) is associated with a reduction of G6PD.  The G6PD deficient genotype A- (~8-20% reduction of G6PD) is typically defined by the possession of the rs1050828 A allele ([[rs1050828(A;A)]]).  In addition, individuals who are type A- almost always possess the [[rs1050829]] G allele. G6PD deficiency frequency is highest in malarial regions where G6PD deficient individuals are typically less affected by malarial infection ({{PMID|19546473|OA=1
}}).  Also, the literature suggests that there is association between the rs1050828 locus and various red blood cell traits in African Americans.
 

{{PMID|20459687|OA=1
}}  A total of 72 SNPs were genotyped in two populations in eastern Sudan (Hausa and Massalit), 
as well as, a cohort of [[malaria]] hospital patients and a control sample set (n=449).  The study found that in comparison to controls (n=69), Massalit individuals (n=60) who possess the rs105828 A allele were less susceptible to malarial infection (P=0.04).

{{PMID|21153663|OA=1
}} Study surveyed 49,094 SNPs (covering ~2,100 candidate genes)in Caucasian (n=23,439) and African American (n=7,112) individuals from five different population cohorts.  Genome wide association results include that rs1050828 A allele found in African American individuals is strongly associated with certain erythrocyte phenotypes including; lower red blood cell, hemoglobin and hematocrit counts (all p values <2.0 x 10 <sup>-13</sup>).

{{PMID|23446634}} In order to identify SNPs associated with different red blood cell phenotypic traits a genome-wide association study was conducted on African Americans (n=16,500). The SNP rs1050828 was found to be associated with hemoglobin (Hgb), hematocrit (Hct), mean corpuscular volume (MCV), and RBC count.

{{PMID|23696099|OA=1
}} A cohort of African American medical patients (n=1904) was analyzed in a genome-wide association study where loci were correlated with certain red blood cell traits.  The rs1050828 locus is associated with RBC count (P=4x10<sup>-13</sup>), mean corpuscular volume (P=1x10<sup>-14</sup>), and mean corpuscular hemoglobin (P=9x10<sup>-9</sup>).

{{GET Evidence
|gene=G6PD
|aa_change=Val98Met
|aa_change_short=V98M
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1050828
|overall_frequency_n=357
|overall_frequency_d=8761
|overall_frequency=0.0407488
|n_genomes=4
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|webscore=N
}}

{{PMID Auto GWAS
  |PMID=23696099
  |Trait=Red blood cell traits
  |Title=Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.
  |RiskAllele=A
  |Pval=4E-13
  |OR=.20
  |ORtxt=[0.14-0.26] x10^12/L decrease
  |OA=1
}}

{{PMID Auto
|PMID=23614351
|Title=The genetic risk of acute seizures in African children with falciparum malaria.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | Illumina Human 1M}}