rs1555396638, FBN1

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 0.160 15 48460305 frameshift variant -/TA delins 0.700 0
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.882 0.160 15 48460305 frameshift variant -/TA delins 0.700 0
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.882 0.160 15 48460305 frameshift variant -/TA delins 0.700 0