EIF2AK4
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | EIF2AK4 |
| GeneCards | EIF2AK4 |
| Diseases | EIF2AK4 |
| wikipedia | EIF2AK4 |
| EIF2AK4 | |
| gopubmed | EIF2AK4 |
| EVS | EIF2AK4 |
| HEFalMp | EIF2AK4 |
| MyGene2 | EIF2AK4 |
| 23andMe | EIF2AK4 |
| # SNPs | 28 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1085307439 | 0 | 39,943,479 | |
| rs1085307440 | 0 | 39,976,734 | |
| rs1085307441 | 0 | 39,978,148 | |
| rs1085307442 | 0 | 40,001,224 | |
| rs1085307443 | 0 | 40,003,201 | |
| rs1085307444 | 0 | 40,020,930 | |
| rs202140402 | 0 | 39,961,785 | |
| rs2250402 | 0 | 40,030,351 | |
| rs2412459 | 0 | 40,003,758 | |
| rs376877634 | 0 | 39,972,904 | |
| rs4432245 | 0 | 40,032,280 | |
| rs587777102 | 7 | 39,967,718 | |
| rs587777103 | 7 | 40,016,544 | |
| rs587777104 | 7 | 39,953,957 | |
| rs587777105 | 7 | 40,007,064 | |
| rs587777106 | 7 | 39,973,685 | |
| rs587777107 | 7 | 39,967,713 | |
| rs587777207 | 7 | 40,016,508 | |
| rs587777208 | 7 | 40,008,067 | |
| rs756902589 | 0 | 40,008,196 | |
| rs757852728 | 0 | 39,976,523 | |
| rs759101551 | 0 | 39,997,054 | |
| rs774163084 | 0 | 39,988,037 | |
| rs774906916 | 0 | 40,003,301 | |
| rs776140816 | 0 | 40,017,243 | |
| rs886037660 | 0 | 39,967,479 | |
| rs886037661 | 0 | 39,965,685 | |
| rs886041403 | 0 | 39,953,950 |
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 24135949
]
Annotated in OMIM using the term pulmonary venoocclusive disease 2, the following EIF2AK4 gene SNPs have been reported:
