Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893810
rs104893810
TGFBR2
0.790 0.360 3 30691477 missense variant C/T snv
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 3 		0.800 1.000 13 2004 2017
dbSNP: rs104893810
rs104893810
TGFBR2
0.790 0.360 3 30691477 missense variant C/T snv
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		0.710 1.000 6 2005 2013
dbSNP: rs104893810
rs104893810
TGFBR2
0.790 0.360 3 30691477 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 4 2005 2012
dbSNP: rs104893810
rs104893810
TGFBR2
0.790 0.360 3 30691477 missense variant C/T snv
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.010 1.000 1 2009 2009
dbSNP: rs104893810
rs104893810
TGFBR2
0.790 0.360 3 30691477 missense variant C/T snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.010 1.000 1 2009 2009
dbSNP: rs104893810
rs104893810
TGFBR2
0.790 0.360 3 30691477 missense variant C/T snv
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs104893810
rs104893810
TGFBR2
0.790 0.360 3 30691477 missense variant C/T snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.010 1.000 1 2009 2009