rs587777107(C;T)
From SNPedia
Carrier of a pulmonary hypertension mutation |
Is a | genotype |
of | rs587777107 |
Gene | EIF2AK4 |
Chromosome | 15 |
Position | 39,967,713 |
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.