rs78478128(C;G)
From SNPedia
| Carrier of G6PD deficiency mutation; variable expressivity |
| Is a | genotype |
| of | rs78478128 |
| Gene | G6PD |
| Chromosome | X |
| Position | 154,536,168 |
| 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 |
Carrier but likely to be asymptomatic. However, effects vary in females due to random X chromosome inactivation.
