rs267606800, 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 0.160 15 48467994 missense variant C/G;T snv 0.700 1.000 6 2000 2016
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.882 0.160 15 48467994 missense variant C/G;T snv 0.700 1.000 6 2000 2016
Stiff Skin Syndrome
CUI: C1861456
Disease: Stiff Skin Syndrome
26 0.882 0.160 15 48467994 missense variant C/G;T snv 0.700 0