rs137852871(A;G)
From SNPedia
Carrier of a maple syrup urine disease mutation |
Is a | genotype |
of | rs137852871 |
Gene | BCKDHA |
Chromosome | 19 |
Position | 41,422,643 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a maple syrup urine disease mutation |
(G;G) | 0 | common in clinvar |
Unaffected in absence of a second BCKDHA gene mutation