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.
Aortic Aneurysm, Familial Thoracic 6
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
16 0.882 0.160 10 88941310 missense variant G/A snv 0.700 1.000 4 2014 2017
Arteriopathic disease
CUI: C0852949
Disease: Arteriopathic disease
14 0.882 0.160 10 88941310 missense variant G/A snv 0.010 1.000 1 2017 2017
Hypotonic bladder disorder
CUI: C0403647
Disease: Hypotonic bladder disorder
2 0.882 0.160 10 88941310 missense variant G/A snv 0.010 1.000 1 2013 2013
Idiopathic pulmonary arterial hypertension
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
24 0.882 0.160 10 88941310 missense variant G/A snv 0.010 1.000 1 2013 2013
Idiopathic pulmonary hypertension
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
5 0.882 0.160 10 88941310 missense variant G/A snv 0.010 1.000 1 2013 2013