rs386834233(A;G)
From SNPedia
Maple Syrup Urine Disease Type 1B carrier |
Is a | genotype |
of | rs386834233 |
Gene | BCKDHB |
Chromosome | 6 |
Position | 80,201,023 |
Merged from | Rs150084361 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5 | Maple Syrup Urine Disease Type 1B |
(A;G) | 3 | Maple Syrup Urine Disease Type 1B carrier |
(G;G) | 0 | common in clinvar |
Unaffected in absence of a second BCKDHB gene mutation