Disease: Aortic aneurysm, familial thoracic 3
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104893819
TGFBR2
0.827 0.240 3 30688470 stop gained C/G;T snv 5
rs104893815
TGFBR2
0.851 0.240 3 30691478 missense variant G/A snv 4