rs1057516036, COL1A2

N. diseases: 4
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.
Bowing of the long bones
CUI: C1855340
Disease: Bowing of the long bones
5 0.925 0.160 7 94423065 missense variant G/A snv 0.700 1.000 1 2016 2016
Increased susceptibility to fractures
CUI: C1390474
Disease: Increased susceptibility to fractures
5 0.925 0.160 7 94423065 missense variant G/A snv 0.700 1.000 1 2016 2016
Osteogenesis imperfecta, recessive perinatal lethal
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
51 0.925 0.160 7 94423065 missense variant G/A snv 0.700 1.000 1 2016 2016
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.925 0.160 7 94423065 missense variant G/A snv 0.700 1.000 1 2016 2016