Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112735431
rs112735431
RNF213 ; RNF213-AS1
0.010 GeneticVariation BEFREE Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension. 31542298

2020
dbSNP: rs531564
rs531564
LINC00599 ; MIR124-1
0.010 GeneticVariation BEFREE Pri-microRNA-124 rs531564 polymorphism minor allele increases the risk of pulmonary artery hypertension by abnormally enhancing proliferation of pulmonary artery smooth muscle cells. 28496318

2017
dbSNP: rs1085307252
rs1085307252
BMPR2
0.010 GeneticVariation BEFREE The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension. 23139147

2014
dbSNP: rs1085307253
rs1085307253
BMPR2
0.010 GeneticVariation BEFREE The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension. 23139147

2014
dbSNP: rs5029939
rs5029939
TNFAIP3
0.010 GeneticVariation BEFREE The strongest associations of rs5029939 with subphenotypes, having large magnitudes for complex genetic disorders, were observed for diffuse cutaneous SSc (pooled OR=2.71 (1.94 to 3.79), p=5.2×10⁻⁹), fibrosing alveolitis (pooled OR=2.26 (1.61 to 3.17), p=2.5×10⁻⁶) and pulmonary arterial hypertension (pooled OR=3.11 (1.86 to 5.17), p=1.3×10⁻⁵). 20511617

2010