rs587777103(T;T)
From SNPedia
| Pulmonary venoocclusive disease |
| Is a | genotype |
| of | rs587777103 |
| Gene | EIF2AK4 |
| Chromosome | 15 |
| Position | 40,016,544 |
| mentioned | by |
| Magnitude | 7 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a pulmonary hypertension mutation |
| (T;T) | 7 | Pulmonary venoocclusive disease |
See EIF2AK4 for discussion of this rare, recessively inherited type of pulmonary hypertension disease.
