rs137852870(A;T)
From SNPedia
| Carrier for a maple syrup urine disease mutation |
| Is a | genotype |
| of | rs137852870 |
| Gene | BCKDHA |
| Chromosome | 19 |
| Position | 41,424,582 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8 | Maple Syrup Urine Disease likely |
| (A;T) | 3 | Carrier for a maple syrup urine disease mutation |
| (T;T) | 0 | common in clinvar |
Unaffected in absence of a second mutation in the BCKDHA gene; see discussion at rs137852870.
