rs104893811, 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
26 0.851 0.160 3 30674228 missense variant C/T snv 0.800 1.000 13 2004 2017
Familial thoracic aortic aneurysm and aortic dissection
442 0.851 0.160 3 30674228 missense variant C/T snv 0.700 1.000 9 2005 2016
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
35 0.851 0.160 3 30674228 missense variant C/T snv 0.010 1.000 1 2017 2017
Marfan Syndrome type 2
CUI: C2931058
Disease: Marfan Syndrome type 2
1 0.851 0.160 3 30674228 missense variant C/T snv 0.010 1 2010 2010