rs431905515(C;T)
From SNPedia
Carrier of an infantile Parkinsonism-dystonia mutation |
Is a | genotype |
of | rs431905515 |
Gene | SLC6A3 |
Chromosome | 5 |
Position | 1,421,997 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 8 | Infantile Parkinsonism-dystonia |
(C;T) | 3 | Carrier of an infantile Parkinsonism-dystonia mutation |
(T;T) | 0 | common in clinvar |
Unaffected in absence of a second SLC6A3 mutation; see SLC6A3