rs72645365, COL1A1

N. diseases: 2
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 IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
65 0.925 0.120 17 50195656 missense variant C/A snv 0.700 1.000 11 1989 2007
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.925 0.120 17 50195656 missense variant C/A snv 0.700 0