rs786201032, IFITM5

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.
Osteogenesis imperfecta, type 5
CUI: C2931093
Disease: Osteogenesis imperfecta, type 5
3 0.925 0.120 11 299372 missense variant G/A snv 0.820 0.750 4 2012 2018
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 0.925 0.120 11 299372 missense variant G/A snv 0.020 1.000 2 2016 2018
Opportunistic Infections
CUI: C0029118
Disease: Opportunistic Infections
7 0.925 0.120 11 299372 missense variant G/A snv 0.010 1.000 1 2016 2016
Short extremities
CUI: C0239399
Disease: Short extremities
10 0.925 0.120 11 299372 missense variant G/A snv 0.010 1.000 1 2014 2014