rs137852741, BMPR2

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Pulmonary Hypertension, Primary, 1
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
323 0.807 0.120 2 202556360 stop gained C/G;T snv 4.0E-06 0.700 1.000 12 2000 2015
Pulmonary arterial hypertension
CUI: C2973725
Disease: Pulmonary arterial hypertension
70 0.807 0.120 2 202556360 stop gained C/G;T snv 4.0E-06 0.700 0
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
3 0.807 0.120 2 202556360 stop gained C/G;T snv 4.0E-06 0.700 0
Idiopathic pulmonary arterial hypertension
24 0.807 0.120 2 202556360 stop gained C/G;T snv 4.0E-06 0.040 1.000 4 2010 2016
Familial primary pulmonary hypertension
2 0.807 0.120 2 202556360 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2014 2014
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.807 0.120 2 202556360 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013
Right Ventricular Hypertrophy
CUI: C0162770
Disease: Right Ventricular Hypertrophy
6 0.807 0.120 2 202556360 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2014 2014