rs119103249(G;T)
From SNPedia
| Carrier of an ethylmalonic encephalopathy mutation |
| Is a | genotype |
| of | rs119103249 |
| Gene | ETHE1 |
| Chromosome | 19 |
| Position | 43,527,175 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of an ethylmalonic encephalopathy mutation |
Unaffected in absence of a second ETHE1 gene mutation
