rs72656351, COL1A1

N. diseases: 2
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.
Bone Diseases
CUI: C0005940
Disease: Bone Diseases
10 1.000 0.120 17 50185576 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2002 2002
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 1.000 0.120 17 50185576 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2002 2002