rs72651645, 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.
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
67 0.925 0.160 17 50191463 missense variant C/T snv 0.800 1.000 16 1989 2015
Dentinogenesis Imperfecta
CUI: C0011436
Disease: Dentinogenesis Imperfecta
7 0.925 0.160 17 50191463 missense variant C/T snv 0.700 0