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rs587777107(T;T)

From SNPedia

Pulmonary venoocclusive disease
Is agenotype
ofrs587777107
GeneEIF2AK4
Chromosome15
Position39,967,713
mentionedby
Magnitude7
ReputeBad
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.