rs727503475, TGFBR2

N. diseases: 3
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.
Aneurysm
CUI: C0002940
Disease: Aneurysm
36 0.882 0.120 3 30688512 splice donor variant G/A;T snv 0.700 0
Familial thoracic aortic aneurysm and aortic dissection
442 0.882 0.120 3 30688512 splice donor variant G/A;T snv 0.700 0
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
35 0.882 0.120 3 30688512 splice donor variant G/A;T snv 0.700 0