Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852748
rs137852748
BMPR2
T 0.700 CausalMutation CLINVAR Bone morphogenetic protein receptor type 2 mutations, clinical phenotypes and outcomes of Japanese patients with sporadic or familial pulmonary hypertension. 23675998

2013
dbSNP: rs137852748
rs137852748
BMPR2
T 0.700 CausalMutation CLINVAR Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients. 21737554

2012
dbSNP: rs137852748
rs137852748
BMPR2
T 0.700 CausalMutation CLINVAR Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations. 21801371

2011
dbSNP: rs137852748
rs137852748
BMPR2
T 0.700 CausalMutation CLINVAR Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation. 18356561

2008
dbSNP: rs137852748
rs137852748
BMPR2
T 0.700 CausalMutation CLINVAR Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. 16429395

2006
dbSNP: rs137852748
rs137852748
BMPR2
T 0.700 CausalMutation CLINVAR Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension. 16717148

2006
dbSNP: rs137852748
rs137852748
BMPR2
T 0.700 CausalMutation CLINVAR Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. 10903931

2000