rs113812345, FBN1

N. diseases: 10
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.
Aneurysm of aortic root
CUI: C1298820
Disease: Aneurysm of aortic root
15 0.790 0.160 15 48513591 stop gained G/A snv 0.700 0
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.790 0.160 15 48513591 stop gained G/A snv 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.790 0.160 15 48513591 stop gained G/A snv 0.700 0
Disproportionate tall stature
CUI: C1836996
Disease: Disproportionate tall stature
17 0.790 0.160 15 48513591 stop gained G/A snv 0.700 0
Hammer Toe
CUI: C1136179
Disease: Hammer Toe
11 0.790 0.160 15 48513591 stop gained G/A snv 0.700 0
Kyphoscoliosis deformity of spine
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
17 0.790 0.160 15 48513591 stop gained G/A snv 0.700 0
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
29 0.790 0.160 15 48513591 stop gained G/A snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.790 0.160 15 48513591 stop gained G/A snv 0.700 0
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.790 0.160 15 48513591 stop gained G/A snv 0.700 1.000 3 2005 2016
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.790 0.160 15 48513591 stop gained G/A snv 0.700 1.000 3 2005 2016