rs72645328, COL1A1

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 17 50196670 missense variant C/G;T snv 0.700 1.000 5 1993 2009
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 0.882 0.120 17 50196670 missense variant C/G;T snv 0.700 0
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
65 0.882 0.120 17 50196670 missense variant C/G;T snv 0.010 1.000 1 2000 2000