rs727504292, 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.
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
35 0.882 0.120 3 30672250 missense variant G/A;C snv 1.6E-05 0.700 1.000 4 2005 2013
Aortic aneurysm, familial thoracic 3
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
26 0.882 0.120 3 30672250 missense variant G/A;C snv 1.6E-05 0.700 0
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.882 0.120 3 30672250 missense variant G/A;C snv 1.6E-05 0.700 0