rs794728319, FBN1

N. diseases: 4
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.
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.851 0.160 15 48427731 frameshift variant AT/- del 0.700 1.000 8 2002 2016
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.851 0.160 15 48427731 frameshift variant AT/- del 0.700 1.000 5 2002 2016
Aneurysm
CUI: C0002940
Disease: Aneurysm
36 0.851 0.160 15 48427731 frameshift variant AT/- del 0.700 0
Congenital aneurysm of ascending aorta
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
19 0.851 0.160 15 48427731 frameshift variant AT/- del 0.700 0