rs137854485, 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 48515402 missense variant G/A snv 0.020 1.000 2 2007 2019
Aortic Aneurysm, Abdominal
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
90 0.925 0.160 15 48515402 missense variant G/A snv 0.010 1.000 1 2019 2019