rs886039551, 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.
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.882 0.120 3 30674186 missense variant G/A snv 0.700 1.000 7 2006 2014
Aortic aneurysm, familial thoracic 3
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
26 0.882 0.120 3 30674186 missense variant G/A snv 0.700 0
Loeys-Dietz Syndrome, Type 1a
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
10 0.882 0.120 3 30674186 missense variant G/A snv 0.700 0
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.882 0.120 3 30674186 missense variant G/A snv 0.010 1.000 1 2006 2006