rs72659325, 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.
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
37 0.882 0.120 7 94427008 missense variant G/C;T snv 0.700 1.000 5 1993 2009
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.882 0.120 7 94427008 missense variant G/C;T snv 0.700 1.000 5 1993 2009
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
65 0.882 0.120 7 94427008 missense variant G/C;T snv 0.700 1.000 1 2015 2015