rs137854461, FBN1

N. diseases: 12
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 0.790 0.280 15 48437026 missense variant T/C snv 0.820 1.000 36 1993 2017
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.790 0.280 15 48437026 missense variant T/C snv 0.700 1.000 6 1993 2007
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0
Disproportionate tall stature
CUI: C1836996
Disease: Disproportionate tall stature
17 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0
Facial asymmetry
CUI: C1306710
Disease: Facial asymmetry
13 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0
Hammer Toe
CUI: C1136179
Disease: Hammer Toe
11 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0
Kyphoscoliosis deformity of spine
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
17 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0
Linear atrophy
CUI: C0152459
Disease: Linear atrophy
6 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
19 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0