Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2217560
rs2217560 		G 0.800 GeneticVariation GWASDB Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. 23502781

2013
dbSNP: rs2217560
rs2217560 		G 0.800 GeneticVariation GWASCAT Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. 23502781

2013
dbSNP: rs1559810905
rs1559810905
IFIH1
A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
dbSNP: rs10103692
rs10103692 		G 0.700 GeneticVariation GWASCAT The SOX17 locus had two independent signals associated with pulmonary arterial hypertension (rs13266183, 1·36 [1·25-1·48], p=1·69 × 10<sup>-12</sup>; and rs10103692). 30527956

2019
dbSNP: rs13266183
rs13266183 		C 0.700 GeneticVariation GWASCAT The SOX17 locus had two independent signals associated with pulmonary arterial hypertension (rs13266183, 1·36 [1·25-1·48], p=1·69 × 10<sup>-12</sup>; and rs10103692). 30527956

2019
dbSNP: rs2856830
rs2856830
HLA-DPA1
C 0.700 GeneticVariation GWASCAT A locus near SOX17 (rs10103692, odds ratio 1·80 [95% CI 1·55-2·08], p=5·13 × 10<sup>-15</sup>) and a second locus in HLA-DPA1 and HLA-DPB1 (collectively referred to as HLA-DPA1/DPB1 here; rs2856830, 1·56 [1·42-1·71], p=7·65 × 10<sup>-20</sup>) within the class II MHC region were associated with pulmonary arterial hypertension. 30527956

2019
dbSNP: rs71427857
rs71427857 		A 0.700 GeneticVariation GWASCAT A genome-wide association analysis identifies PDE1A;DNAJC10 locus on chromosome 2 associated with idiopathic pulmonary arterial hypertension in a Japanese population. 29088834

2017
dbSNP: rs1060502576
rs1060502576
BMPR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502581
rs1060502581
BMPR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1085307149
rs1085307149
BMPR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1085307154
rs1085307154
BMPR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1085307157
rs1085307157
BMPR2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307163
rs1085307163
BMPR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1085307169
rs1085307169
BMPR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1085307177
rs1085307177
BMPR2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085307180
rs1085307180
BMPR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1085307184
rs1085307184
BMPR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1085307188
rs1085307188
BMPR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1085307203
rs1085307203
BMPR2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085307203
rs1085307203
BMPR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1085307222
rs1085307222
BMPR2
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1085307223
rs1085307223
BMPR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1085307225
rs1085307225
BMPR2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085307229
rs1085307229
BMPR2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307234
rs1085307234
BMPR2
AC 0.700 CausalMutation CLINVAR