rs397515789, FBN1

N. diseases: 10
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 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 1.000 3 2005 2009
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 1.000 3 2005 2009
Abnormality of cardiovascular system morphology
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
13 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 0
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 0
Disproportionate tall stature
CUI: C1836996
Disease: Disproportionate tall stature
17 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 0
Kyphoscoliosis deformity of spine
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
17 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 0
Limitation of joint mobility
CUI: C1857108
Disease: Limitation of joint mobility
3 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 0