rs137854468, FBN1

N. diseases: 6
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 0.851 0.160 15 48487396 missense variant C/T snv 0.810 1.000 26 1976 2013
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.851 0.160 15 48487396 missense variant C/T snv 0.700 1.000 5 1976 2010
MARFAN SYNDROME, MILD
CUI: C4016056
Disease: MARFAN SYNDROME, MILD
1 0.851 0.160 15 48487396 missense variant C/T snv 0.700 0
Aneurysm of ascending aorta
CUI: C0856747
Disease: Aneurysm of ascending aorta
16 0.851 0.160 15 48487396 missense variant C/T snv 0.010 1.000 1 1995 1995
Aortic aneurysm and dissection
CUI: C1812607
Disease: Aortic aneurysm and dissection
1 0.851 0.160 15 48487396 missense variant C/T snv 0.010 1.000 1 1995 1995
Connective Tissue Diseases
CUI: C0009782
Disease: Connective Tissue Diseases
24 0.851 0.160 15 48487396 missense variant C/T snv 0.010 1.000 1 2001 2001