rs5030868(C;T)
From SNPedia
G6PD Heterozygous |
Is a | genotype |
of | rs5030868 |
Gene | G6PD |
Chromosome | X |
Position | 154,534,419 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(-;C) | 0 | |
(C;-) | 0 | |
(C;C) | 0 | common in clinvar |
(C;T) | 3 | G6PD Heterozygous |
(T;T) | 6 | Homozygous/Hemizygous mutant |
Highly variable phenotype due to random X-chromosome silencing in females.