rs768171831, COL1A2

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 type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
67 0.882 0.120 7 94426011 missense variant C/T snv 1.2E-04; 4.0E-06 5.6E-05 0.700 0
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
65 0.882 0.120 7 94426011 missense variant C/T snv 1.2E-04; 4.0E-06 5.6E-05 0.700 0
Osteogenesis imperfecta, recessive perinatal lethal
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
51 0.882 0.120 7 94426011 missense variant C/T snv 1.2E-04; 4.0E-06 5.6E-05 0.700 0