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EIF2AK4

From SNPedia

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# SNPs11
 Max MagnitudeChromosome positionSummary
rs225040240,030,351
rs241245940,003,758
rs443224540,032,280
rs587777102739,967,718
rs587777103740,016,544
rs587777104739,953,957
rs587777105740,007,064
rs587777106739,973,685
rs587777107739,967,713
rs587777207740,016,508
rs587777208740,008,067

Recessively inherited mutations in the EIF2AK4 gene have been reported to lead to rare forms of pulmonary hypertension, specifically, pulmonary capillary hemangiomatosis (PCH) and pulmonary venoocclusive disease (PVOD).[PMID 24135949OA-icon.png]

Annotated in OMIM using the term pulmonary venoocclusive disease 2, the following EIF2AK4 gene SNPs have been reported: