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rs587777207(C;T)

From SNPedia

Carrier of a pulmonary hypertension mutation
Is agenotype
ofrs587777207
GeneEIF2AK4
Chromosome15
Position40,016,508
mentionedby
Magnitude3
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

Unaffected carrier of a recessive mutation leading to pulmonary venoocclusive disease; see EIF2AK4 for discussion.