rs104893810, TGFBR2

N. diseases: 7
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.
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
158 0.790 0.360 3 30691477 missense variant C/T snv 0.010 1.000 1 2009 2009
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.790 0.360 3 30691477 missense variant C/T snv 0.010 1.000 1 2009 2009
Trichohepatoenteric Syndrome
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
28 0.790 0.360 3 30691477 missense variant C/T snv 0.010 1.000 1 2009 2009
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.790 0.360 3 30691477 missense variant C/T snv 0.010 1.000 1 2009 2009
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.790 0.360 3 30691477 missense variant C/T snv 0.700 1.000 4 2005 2012
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
35 0.790 0.360 3 30691477 missense variant C/T snv 0.710 1.000 6 2005 2013
Aortic aneurysm, familial thoracic 3
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
26 0.790 0.360 3 30691477 missense variant C/T snv 0.800 1.000 13 2004 2017