rs1057518881, 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.
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.827 0.200 15 48513656 missense variant C/A;G;T snv 0.700 1.000 7 2006 2017
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.827 0.200 15 48513656 missense variant C/A;G;T snv 0.700 1.000 7 2006 2017
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.827 0.200 15 48513656 missense variant C/A;G;T snv 0.700 0
Lens Subluxation
CUI: C0023316
Disease: Lens Subluxation
3 0.827 0.200 15 48513656 missense variant C/A;G;T snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.827 0.200 15 48513656 missense variant C/A;G;T snv 0.700 0
Tall stature
CUI: C0241240
Disease: Tall stature
14 0.827 0.200 15 48513656 missense variant C/A;G;T snv 0.700 0