rs67865220, 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.
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
67 0.851 0.120 7 94409795 missense variant G/A;C;T snv 0.800 0
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
81 0.851 0.120 7 94409795 missense variant G/A;C;T snv 0.700 1.000 16 1993 2017
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.851 0.120 7 94409795 missense variant G/A;C;T snv 0.700 1.000 16 1993 2017
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 0.851 0.120 7 94409795 missense variant G/A;C;T snv 0.020 1.000 2 2016 2017