rs140598, FBN1

N. diseases: 5
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 0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02 0.030 1.000 3 1997 2001
Aortic Aneurysm
CUI: C0003486
Disease: Aortic Aneurysm
19 0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02 0.010 1.000 1 1997 1997
Aortic aneurysm without mention of rupture NOS
CUI: C0340629
Disease: Aortic aneurysm without mention of rupture NOS
4 0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02 0.010 1.000 1 1997 1997
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02 0.010 1.000 1 1997 1997
Essential Hypertension
CUI: C0085580
Disease: Essential Hypertension
293 0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02 0.010 1.000 1 2011 2011