rs794728228, FBN1

N. diseases: 4
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
442 0.925 0.160 15 48468064 stop gained G/A snv 0.700 1.000 7 1999 2013
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.925 0.160 15 48468064 stop gained G/A snv 0.700 1.000 7 1999 2013
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.925 0.160 15 48468064 stop gained G/A snv 0.010 1.000 1 2003 2003
Paresis
CUI: C0030552
Disease: Paresis
49 0.925 0.160 15 48468064 stop gained G/A snv 0.010 1.000 1 2003 2003