rs121964992(A;G)
From SNPedia
Carrier of a dihydrolipoamide dehydrogenase deficiency mutation (also known as Maple Syrup Urine disease type III) |
Is a | genotype |
of | rs121964992 |
Gene | DLD |
Chromosome | 7 |
Position | 107,917,349 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a dihydrolipoamide dehydrogenase deficiency mutation (also known as Maple Syrup Urine disease type III) |
(G;G) | 0 | common in clinvar |
Unaffected in absence of a second DLD gene mutation