rs140592, 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 48489947 missense variant A/G snv 7.0E-06 0.800 1.000 35 1993 2017
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.925 0.160 15 48489947 missense variant A/G snv 7.0E-06 0.700 1.000 5 1998 2016