rs587777207
A SNP in the EIF2AK4 gene on chromosome 15. Its most notable genotype is T;T: Pulmonary venoocclusive disease
- Gene
- EIF2AK4
- Location
- Chr 1540,016,508 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TBadCarrier of a pulmonary hypertension mutation
- T;TMost notableBadPulmonary venoocclusive disease
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other EIF2AK4 SNPs
- rs587777102-;-Pulmonary venoocclusive diseaseVery important
- rs587777103T;TPulmonary venoocclusive diseaseVery important
- rs587777104G;GPulmonary venoocclusive diseaseVery important
- rs587777105T;TPulmonary venoocclusive diseaseVery important
- rs587777106A;APulmonary venoocclusive diseaseVery important
- rs587777107T;TPulmonary venoocclusive diseaseVery important
- rs587777208T;TPulmonary venoocclusive diseaseVery important
- rs2250402G;Gcommon in clinvarTypical
Notes
From SNPedia
Notes
Also known as c.3766C>T (p.Arg1256Ter), this rare mutation in the EIF2AK4 gene is reported in ClinVar as leading to - when inherited recessively - rare forms of pulmonary hypertension, specifically, pulmonary capillary hemangiomatosis (PCH) and pulmonary venoocclusive disease (PVOD).
C;T
Unaffected carrier of a recessive mutation leading to pulmonary venoocclusive disease; see EIF2AK4 for discussion.
T;T
See EIF2AK4 for discussion of this rare, recessively inherited type of pulmonary hypertension disease.
Source and license
Adapted from rs587777207 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.