rs72651658, COL1A1

N. diseases: 5
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 0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06 0.700 1.000 15 1989 2008
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06 0.700 1.000 5 1993 2016
Early-Onset Glaucoma
CUI: C3711383
Disease: Early-Onset Glaucoma
1 0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
Primary congenital glaucoma
CUI: C1533041
Disease: Primary congenital glaucoma
25 0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016