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rs1050828(A;G)

From SNPedia

G6PD deficiency carrier
Is agenotype
ofrs1050828
GeneG6PD
ChromosomeX
Position154,536,002
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;G) 0
(A;A) 4 G6PD deficiency
(A;G) 3 G6PD deficiency carrier
(G;-) 0
(G;G) 0 common in clinvar

The rs1050828 A allele is a diagnostic SNP of the type A- G6PD deficiency genotype. While the G allele (rs1050828(G;G)) is associated with 'normal' levels of glucose-6-phosphate dehydrogenase, the A allele is associated with a reduction of G6PD production. Because rs1050828 is located on the X chromosome, only females can be heterozygous for both the A and G allele. Furthermore, due to the process of X chromosome lyonization, the severity of G6PD deficiency will vary across females. G6PD type A- is predominantly found in individuals with African ancestry while the G allele is found in other ethnic groups. The rs1050828 A allele is also associated with malarial resistance.