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rs587777104(G;G)

From SNPedia
Pulmonary venoocclusive disease
Is agenotype
ofrs587777104
GeneEIF2AK4
Chromosome15
Position39,953,957
mentionedby
Magnitude7
ReputeBad
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 3 Carrier of a pulmonary hypertension mutation
(G;G) 7 Pulmonary venoocclusive disease

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