rs587777102
A SNP in the EIF2AK4 gene on chromosome 15. Its most notable genotype is -;-: Pulmonary venoocclusive disease
- Gene
- EIF2AK4
- Location
- Chr 1539,967,718 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Most notableBadPulmonary venoocclusive disease
- -;TBadCarrier of a pulmonary hypertension mutation
- T;TGoodcommon in clinvar
On SNPedia: (-;-), (-;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other EIF2AK4 SNPs
- 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
- rs587777207T;TPulmonary venoocclusive diseaseVery important
- rs587777208T;TPulmonary venoocclusive diseaseVery important
- rs2250402G;Gcommon in clinvarTypical
Notes
From SNPedia
Notes
Also known as c.1392delT (p.Arg465Valfs), 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).
-;-
See EIF2AK4 for discussion of this rare, recessively inherited type of pulmonary hypertension disease.
-;T
Unaffected carrier of a recessive mutation leading to pulmonary venoocclusive disease; see EIF2AK4 for discussion.
Source and license
Adapted from rs587777102 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.