rs2856830 in
HLA-DPA1 gene and
Pulmonary arterial hypertension
PMID 30527956 2019 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.
rs1559810905 in
IFIH1 gene and
Pulmonary arterial hypertension
PMID 30965144 2020 An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.