rs397515804, FBN1

N. diseases: 11
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 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 1.000 9 1973 2014
Familial thoracic aortic aneurysm and aortic dissection
442 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 1.000 8 1973 2014
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 0
Facial asymmetry
CUI: C1306710
Disease: Facial asymmetry
13 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 0
Kyphoscoliosis deformity of spine
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
17 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 0
Mitral Valve Insufficiency
CUI: C0026266
Disease: Mitral Valve Insufficiency
11 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 0
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
29 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 0
Retinal Detachment
CUI: C0035305
Disease: Retinal Detachment
10 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 0
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
19 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 0
Tricuspid Valve Insufficiency
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
5 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 0