Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1006246556
rs1006246556
BMPR2
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		A 0.700 CausalMutation CLINVAR Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension. 19223935

2009