rs67507747, COL1A1

N. diseases: 4
Source: CURATED ×
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
CUI: C0029434
Disease: Osteogenesis Imperfecta
52 0.827 0.160 17 50194032 missense variant C/A;G;T snv 0.710 1.000 0 2001 2001
Osteogenesis imperfecta, dominant perinatal lethal
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
90 0.827 0.160 17 50194032 missense variant C/A;G;T snv 0.700 1.000 20 1986 2015
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
255 0.827 0.160 17 50194032 missense variant C/A;G;T snv 0.700 1.000 12 1993 2017
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
59 0.827 0.160 17 50194032 missense variant C/A;G;T snv 0.700 1.000 11 1989 2007