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rs587777104(-;G)

From SNPedia

Carrier of a pulmonary hypertension mutation
Is agenotype
ofrs587777104
GeneEIF2AK4
Chromosome15
Position39,953,957
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 3 Carrier of a pulmonary hypertension mutation
(G;G) 7 Pulmonary venoocclusive disease

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