Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060502576
rs1060502576
BMPR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs137852741
rs137852741
BMPR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs774906916
rs774906916
EIF2AK4
0.010 GeneticVariation BEFREE The aims of this study were phenotypical characterization and survival analysis of Iberian Romani patients with familial PVOD carrying the founder p.Pro1115Leu mutation in EIF2AK4, according to their tolerance to pulmonary vasodilators (PVD). 28697925

2018