rs137854475, FBN1

N. diseases: 3
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 0.882 0.200 15 48487155 missense variant C/T snv 1.3E-03 1.6E-03 0.700 1.000 30 1993 2017
OVERLAP CONNECTIVE TISSUE DISEASE
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
31 0.882 0.200 15 48487155 missense variant C/T snv 1.3E-03 1.6E-03 0.700 0
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.882 0.200 15 48487155 missense variant C/T snv 1.3E-03 1.6E-03 0.010 1.000 1 1994 1994