rs794728199, FBN1

N. diseases: 3
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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.882 0.200 15 48489980 missense variant C/A;T snv 0.700 1.000 5 2001 2014
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.882 0.200 15 48489980 missense variant C/A;T snv 0.700 1.000 5 2001 2014
Ehlers-Danlos Syndrome, Type IV
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
391 0.882 0.200 15 48489980 missense variant C/A;T snv 0.010 1.000 1 2015 2015