rs137854466, FBN1

N. diseases: 23
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 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 1.000 3 1994 2002
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 1.000 3 1994 2002
Abnormality of the sternum
CUI: C1860493
Disease: Abnormality of the sternum
11 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Aortic Aneurysm
CUI: C0003486
Disease: Aortic Aneurysm
19 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Disproportionate tall stature
CUI: C1836996
Disease: Disproportionate tall stature
17 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Dissection of aorta
CUI: C0340643
Disease: Dissection of aorta
16 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Facial asymmetry
CUI: C1306710
Disease: Facial asymmetry
13 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Hyperextensible skin
CUI: C0241074
Disease: Hyperextensible skin
11 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Linear atrophy
CUI: C0152459
Disease: Linear atrophy
6 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Narrow nose
CUI: C0426422
Disease: Narrow nose
1 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Retinal Detachment
CUI: C0035305
Disease: Retinal Detachment
10 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Severe myopia
CUI: C0271183
Disease: Severe myopia
116 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Skin Abnormalities
CUI: C0037268
Disease: Skin Abnormalities
16 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Tooth Abnormalities
CUI: C0040427
Disease: Tooth Abnormalities
2 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
19 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0