rs121912708(C;T)
From SNPedia
Carrier of a pyridoxine-dependent epilepsy mutation |
Is a | genotype |
of | rs121912708 |
Gene | ALDH7A1 |
Chromosome | 5 |
Position | 126,583,997 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a pyridoxine-dependent epilepsy mutation |
Unaffected in absence of a second mutation in the ALDH7A1 gene; see text and links via main rs-page