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rs1050828(A;A)

From SNPedia

G6PD deficiency
Is agenotype
ofrs1050828
GeneG6PD
ChromosomeX
Position154,536,002
mentionedby
Magnitude4
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 A allele is associated with a reduction in glucose-6-phosphate dehydrogenase (G6PD) and is a diagnostic SNP of the type A- G6PD deficiency genotype. Type A- is predominantly found in individuals with African ancestry. The rs1050828 A allele is also associated with malarial resistance. Because rs1050828 is located on the x chromosome, males are either hemizygous for the A or G allele (rs1050828(G;G)).