rs112550005, FBN1

N. diseases: 18
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.
Abnormality of cardiovascular system morphology
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
13 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
Abnormality of the sternum
CUI: C1860493
Disease: Abnormality of the sternum
11 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
Aortic Valve Insufficiency
CUI: C0003504
Disease: Aortic Valve Insufficiency
8 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
Disproportionate tall stature
CUI: C1836996
Disease: Disproportionate tall stature
17 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
Hyperextensible skin
CUI: C0241074
Disease: Hyperextensible skin
11 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
29 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
Skin Abnormalities
CUI: C0037268
Disease: Skin Abnormalities
16 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
19 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
Tricuspid Valve Prolapse
CUI: C0040962
Disease: Tricuspid Valve Prolapse
4 0.742 0.240 15 48425829 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 0.742 0.240 15 48425829 stop gained G/A snv 0.700 1.000 2 2002 2016
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.742 0.240 15 48425829 stop gained G/A snv 0.700 1.000 2 2002 2016