rs72656370, COL1A2

N. diseases: 3
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.
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.882 0.120 7 94406286 missense variant G/A snv 4.0E-06 0.700 1.000 5 2006 2015
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
81 0.882 0.120 7 94406286 missense variant G/A snv 4.0E-06 0.700 1.000 4 2006 2015
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
65 0.882 0.120 7 94406286 missense variant G/A snv 4.0E-06 0.700 0