rs137852319(G;T)
From SNPedia
Carrier of G6PD deficiency mutation; variable expressivity |
Is a | genotype |
of | rs137852319 |
Gene | G6PD |
Chromosome | X |
Position | 154,534,157 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(G;G) | 5 | G6PD deficiency |
(G;T) | 3 | Carrier of G6PD deficiency mutation; variable expressivity |
(T;T) | 0 | common in clinvar |
Carrier but likely to be asymptomatic. However, effects vary in females due to random X chromosome inactivation.