rs113544411, 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 48421652 stop gained G/A;C;T snv 1.2E-05 0.800 1.000 17 1996 2017
Familial thoracic aortic aneurysm and aortic dissection
442 0.925 0.160 15 48421652 stop gained G/A;C;T snv 1.2E-05 0.700 1.000 7 2000 2009