rs200309328, 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.
Familial thoracic aortic aneurysm and aortic dissection
442 0.925 0.160 15 48412715 stop gained G/A;C snv 4.0E-06 0.700 1.000 6 2004 2016
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.925 0.160 15 48412715 stop gained G/A;C snv 4.0E-06 0.700 1.000 6 2004 2016