rs431905504(A;G)
From SNPedia
Carrier of an infantile Parkinsonism-dystonia mutation |
Is a | genotype |
of | rs431905504 |
Gene | SLC6A3 |
Chromosome | 5 |
Position | 1,411,242 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8 | Infantile Parkinsonism-dystonia |
(A;G) | 3 | Carrier of an infantile Parkinsonism-dystonia mutation |
(G;G) | 0 | common in clinvar |
Unaffected in absence of a second SLC6A3 mutation; see SLC6A3