rs104893815, TGFBR2

N. diseases: 4
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 0.851 0.240 3 30691478 missense variant G/A snv 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 0.851 0.240 3 30691478 missense variant G/A snv 0.700 1.000 7 2005 2014
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
35 0.851 0.240 3 30691478 missense variant G/A snv 0.700 1.000 2 2005 2006
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
CUI: C1860896
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
4 0.851 0.240 3 30691478 missense variant G/A snv 0.700 0