rs186558364(A;T)
From SNPedia
Carrier of a pyridoxine-dependent epilepsy mutation |
Is a | genotype |
of | rs186558364 |
Gene | ALDH7A1 |
Chromosome | 5 |
Position | 126,550,236 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;T) | 3 | Carrier of a pyridoxine-dependent epilepsy mutation |
(T;T) | 0 | common in clinvar |
Unaffected in absence of a second mutation in the ALDH7A1 gene; see text and links via main rs-page