rs25404, FBN1

N. diseases: 2
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 0.925 0.160 15 48613009 splice donor variant C/A;T snv 0.700 1.000 9 1993 2013
Familial thoracic aortic aneurysm and aortic dissection
442 0.925 0.160 15 48613009 splice donor variant C/A;T snv 0.700 1.000 8 1993 2013