rs193922219, FBN1

N. diseases: 9
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 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 1.000 13 1995 2014
Familial thoracic aortic aneurysm and aortic dissection
442 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 1.000 3 1995 2009
Aneurysm of aortic root
CUI: C1298820
Disease: Aneurysm of aortic root
15 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0
Dissecting aortic aneurysm
CUI: C0012736
Disease: Dissecting aortic aneurysm
6 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0
Ectopia Lentis
CUI: C0013581
Disease: Ectopia Lentis
17 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0
melanoma
CUI: C0025202
Disease: melanoma
515 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0
Severe myopia
CUI: C0271183
Disease: Severe myopia
116 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0