rs137852318(C;G)
From SNPedia
Carrier of G6PD deficiency mutation; variable expressivity |
Is a | genotype |
of | rs137852318 |
Gene | G6PD |
Chromosome | X |
Position | 154,533,596 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 5 | G6PD deficiency |
(C;G) | 3 | Carrier of G6PD deficiency mutation; variable expressivity |
(G;G) | 0 | common in clinvar |
(G;T) | 3 | Carrier of G6PD deficiency mutation; variable expressivity |
(T;T) | 5 | G6PD deficiency |
Carrier but likely to be asymptomatic. However, effects vary in females due to random X chromosome inactivation.