rs118204046(A;G)
From SNPedia
| Carrier of a methylmalonic aciduria type cblD mutation |
| Is a | genotype |
| of | rs118204046 |
| Gene | MMADHC |
| Chromosome | 2 |
| Position | 149,570,119 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a methylmalonic aciduria type cblD mutation |
Unaffected in absence of a second MMADHC gene mutation
