Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775921458
rs775921458
0.010 GeneticVariation BEFREE We identified a de novo novel heterozygous predicted deleterious missense variant c.G2873A (p.R958H) in ABCC8 in a child with idiopathic PAH. 30354297

2018

dbSNP: rs886039303
rs886039303
0.010 GeneticVariation BEFREE We report on a novel de novo c.535C>T in exon 6 leading to p.R179C aminoacid substitution in ACTA2 in a toddler girl with primary pulmonary hypertension, persistent ductus arteriosus, extensive cerebral white matter lesions, fixed dilated pupils, intestinal malrotation, and hypotonic bladder. 23613326

2013

dbSNP: rs2277382
rs2277382
0.010 GeneticVariation BEFREE The genotyping of 22 SNP including the latter showed that only rs2277382 was associated with SSc-PAH (p=0.0066, OR 2.13, 95% CI 1.24 to 3.65). 22896741

2012

dbSNP: rs137852741
rs137852741
0.040 GeneticVariation BEFREE Administration of rhACE2 to Rosa26-Bmpr2(R899X) mice with established PAH normalizes pulmonary pressures. 22180660

2012

dbSNP: rs137852741
rs137852741
0.040 GeneticVariation BEFREE Three BMPR2 mutants, D485G, N519K, and R899X, which are known to be involved in PAH, were chosen as our model system. 21622843

2011

dbSNP: rs137852741
rs137852741
0.040 GeneticVariation BEFREE Using a targeted in vivo gene delivery approach, we assessed the impact of BMPR2 gene delivery in a transgenic mouse model in which PAH was first induced by doxycycline driven expression of a dominant negative BMPR2 mutant (R899X). 26689975

2016

dbSNP: rs137852741
rs137852741
0.040 GeneticVariation BEFREE We tested this notion using bone marrow-derived macrophages (BMDM; precursors of tissue macrophages) isolated from ROSA26rtTAXTetO(7)-tet-BMPR2(R899X) mice (model of PAH with universal expression of a mutated BMPR2 gene) with and without activation by LPS and in human lung tissue from HPAH with BMPR2 mutations and idiopathic PAH (IPAH). 20562228

2010

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

2014

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

2014

dbSNP: rs137852749
rs137852749
0.010 GeneticVariation BEFREE This finding may help to advance our understanding of RP in PAH across families sharing the p.Arg491Gln pathogenic mutation in <i>BMPR2</i>. 30894412

2019

dbSNP: rs41322046
rs41322046
0.010 GeneticVariation BEFREE The aim of this study was to analyze the Endoglin (ENG) gene and assess the influence of the c.572G > A (p.G191D) mutation in patients with idiopathic or associated PAH. 27260700

2016

dbSNP: rs77375493
rs77375493
0.010 GeneticVariation BEFREE Correlation analysis between JAK2 V617F allele burden and other parameters revealed: statistical significant correlation with age, HB, HCT, PLT, UA, LDH, and splenic diameter but insignificant correlation with WBCs and PAH. 27468853

2016

dbSNP: rs10744676
rs10744676
0.010 GeneticVariation BEFREE Our results provide the first evidence for an association between the KCNA5 rs10744676 variant and PAH associated with SSc. 20556823

2010

dbSNP: rs619586
rs619586
0.010 GeneticVariation BEFREE Taken together, our findings propose that functional polymorphism rs619586A>G in MALAT1 gene plays an important role in PAH pathogenesis and may serve as a potential indicator for PAH susceptibility. 27362960

2017

dbSNP: rs201234174
rs201234174
0.010 GeneticVariation BEFREE The compound heterozygous MUC6 gene mutation (p.Pro1716Ser) suggests a novel disease mechanism leading to PAH. 30047301

2019

dbSNP: rs374514431
rs374514431
0.010 GeneticVariation BEFREE Patients with autosome recessive inheritance of NFU1 mutation G208C have reduced activity of the respiratory chain complex II, lipoic-acid dependent enzymes, and develop pulmonary arterial hypertension (PAH) in ~ 70% of cases. 31461310

2020

dbSNP: rs1359984100
rs1359984100
0.010 GeneticVariation BEFREE Using a targeted in vivo gene delivery approach, we assessed the impact of BMPR2 gene delivery in a transgenic mouse model in which PAH was first induced by doxycycline driven expression of a dominant negative BMPR2 mutant (R899X). 26689975

2016

dbSNP: rs344781
rs344781
0.010 GeneticVariation BEFREE In the Italian cohort, the rs344781 G allele was associated with SSc-related digital ulceration (odds ratio [OR] 1.39), pulm</span>onary arterial hypertension (PAH) (OR 1.81), anticentromere antibody (ACA) positivity (OR 1.45), and limited cutaneous SSc (lcSSc) (OR 1.37). 20967855

2011

dbSNP: rs80338796
rs80338796
0.010 GeneticVariation BEFREE We present two infants with Noonan syndrome and an identical RAF1 mutation, p.Ser257Leu (c.770C>T), who developed severe pulmonary arterial hypertension (PAH) that proved to be fatal. 25706034

2015

dbSNP: rs112735431
rs112735431
0.010 GeneticVariation BEFREE Documentation of the RNF213 p.Arg4810Lys variant, as well as already known pathogenic genes, such as BMPR2, can provide clinically relevant information for therapeutic strategies, leading to a personalized approach for the treatment of PAH. 31542298

2020

dbSNP: rs6354
rs6354
0.010 GeneticVariation BEFREE Three Tag single-nucleotide polymorphisms (SNP) (rs2066713, rs1042173, rs6354) chosen using Hapmap and linkage disequilibrium data were genotyped in a total cohort of 667 SSc patients (56 with PAH, 207 with digital ulcerations) and 447 controls. 20395645

2010

dbSNP: rs863223746
rs863223746
0.010 GeneticVariation BEFREE We report on a novel de novo c.535C>T in exon 6 leading to p.R179C aminoacid substitution in ACTA2 in a toddler girl with primary pulmonary hypertension, persistent ductus arteriosus, extensive cerebral white matter lesions, fixed dilated pupils, intestinal malrotation, and hypotonic bladder. 23613326

2013

dbSNP: rs4880
rs4880
0.010 GeneticVariation BEFREE There is significant association between SOD rs4880 polymorphism and the PAH susceptibility, and this polymorphism influenced PAH susceptibility by altering the expression of SOD2. 28272301

2017

dbSNP: rs5743704
rs5743704
0.010 GeneticVariation BEFREE Among patients with SSc, the rare TLR2 Pro631His variant is robustly associated with antitopoisomerase positivity, the diffuse form of the disease, and the development of PAH. 21905008

2012

dbSNP: rs5029939
rs5029939
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