rs387906853, SMAD3

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.
LOEYS-DIETZ SYNDROME 3
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
9 0.925 0.040 15 67181297 stop gained G/A;T snv 0.800 1.000 2 2011 2011
Congenital aneurysm of ascending aorta
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
19 0.925 0.040 15 67181297 stop gained G/A;T snv 0.700 0
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
40 0.925 0.040 15 67181297 stop gained G/A;T snv 0.010 1.000 1 2015 2015