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 0.120 10 88939680 missense variant C/T snv 0.800 1.000 8 2007 2017
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.882 0.120 10 88939680 missense variant C/T snv 0.700 1.000 2 2009 2009
Congenital aneurysm of ascending aorta
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
19 0.882 0.120 10 88939680 missense variant C/T snv 0.010 1.000 1 2009 2009