rs72653131, COL1A1

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.
Osteogenesis imperfecta, dominant perinatal lethal
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
93 0.882 0.120 17 50190045 missense variant C/T snv 0.700 1.000 20 1986 2015
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
65 0.882 0.120 17 50190045 missense variant C/T snv 0.700 1.000 1 2015 2015
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
67 0.882 0.120 17 50190045 missense variant C/T snv 0.700 0