rs1114167414, COL1A2

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 0.120 7 94426433 missense variant G/A snv 0.700 1.000 1 2015 2015
Osteogenesis imperfecta, dominant perinatal lethal
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
93 0.925 0.120 7 94426433 missense variant G/A snv 0.700 0