rs137852329(C;G)
From SNPedia
Carrier of G6PD deficiency mutation; variable expressivity |
Is a | genotype |
of | rs137852329 |
Gene | G6PD |
Chromosome | X |
Position | 154,532,765 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5 | G6PD deficiency |
(A;C) | 3 | Carrier of G6PD deficiency mutation; variable expressivity |
(C;C) | 0 | common in clinvar |
(C;G) | 3 | Carrier of G6PD deficiency mutation; variable expressivity |
(G;G) | 5 | G6PD deficiency |
Carrier but likely to be asymptomatic. However, effects vary in females due to random X chromosome inactivation.