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rs587777106(A;A)

From SNPedia
Pulmonary venoocclusive disease
Is agenotype
ofrs587777106
GeneEIF2AK4
Chromosome15
Position39,973,685
mentionedby
Magnitude7
ReputeBad
Geno Mag Summary
(A;A) 7 Pulmonary venoocclusive disease
(A;G) 3 Carrier of a pulmonary hypertension mutation
(G;G) 0 common in clinvar

See EIF2AK4 for discussion of this rare, recessively inherited type of pulmonary hypertension disease.