rs121964990(G;T)
From SNPedia
| Carrier of a dihydrolipoamide dehydrogenase deficiency mutation (also known as Maple Syrup Urine disease type III) |
| Is a | genotype |
| of | rs121964990 |
| Gene | DLD |
| Chromosome | 7 |
| Position | 107,915,506 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a dihydrolipoamide dehydrogenase deficiency mutation (also known as Maple Syrup Urine disease type III) |
| (T;T) | 5 | Dihydrolipooamide Dehydrogenase Deficiency |
Unaffected in absence of a second DLD gene mutation
