rs104893819, TGFBR2

N. diseases: 5
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.
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
35 0.827 0.240 3 30688470 stop gained C/G;T snv 0.700 1.000 6 2006 2016
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.827 0.240 3 30688470 stop gained C/G;T snv 0.700 1.000 5 2004 2012
Aortic aneurysm, familial thoracic 3
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
26 0.827 0.240 3 30688470 stop gained C/G;T snv 0.700 0
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
CUI: C1860896
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
4 0.827 0.240 3 30688470 stop gained C/G;T snv 0.700 0
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
214 0.827 0.240 3 30688470 stop gained C/G;T snv 0.700 0