rs104893816, TGFBR2

N. diseases: 3
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 3
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
26 0.882 0.120 3 30674229 missense variant G/A;T snv 4.0E-06 0.800 1.000 13 2004 2017
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.882 0.120 3 30674229 missense variant G/A;T snv 4.0E-06 0.700 1.000 4 2005 2011
Congenital aneurysm of ascending aorta
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
19 0.882 0.120 3 30674229 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2006 2006