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EIF2AK4

From SNPedia
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ClinVarEIF2AK4
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# SNPs28
 Max MagnitudeChromosome positionSummary
rs1085307439039,943,479
rs1085307440039,976,734
rs1085307441039,978,148
rs1085307442040,001,224
rs1085307443040,003,201
rs1085307444040,020,930
rs202140402039,961,785
rs2250402040,030,351
rs241245940,003,758
rs376877634039,972,904
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
rs756902589040,008,196
rs757852728039,976,523
rs759101551039,997,054
rs774163084039,988,037
rs774906916040,003,301
rs776140816040,017,243
rs886037660039,967,479
rs886037661039,965,685
rs886041403039,953,950

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: