rs587777207(C;T)
From SNPedia
| Carrier of a pulmonary hypertension mutation |
| Is a | genotype |
| of | rs587777207 |
| Gene | EIF2AK4 |
| Chromosome | 15 |
| Position | 40,016,508 |
| mentioned | by |
| Magnitude | 3 |
| 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 |
Unaffected carrier of a recessive mutation leading to pulmonary venoocclusive disease; see EIF2AK4 for discussion.
