rs121912911, 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 0.200 7 94426442 missense variant G/C snv 0.710 1.000 1 1996 1996
Arachnoid Cysts
CUI: C0078981
Disease: Arachnoid Cysts
6 0.925 0.200 7 94426442 missense variant G/C snv 0.010 1.000 1 1996 1996