rs67815019, 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.
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.925 0.120 17 50187041 missense variant C/A;T snv 0.700 1.000 6 2007 2017
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 0.925 0.120 17 50187041 missense variant C/A;T snv 0.700 1.000 2 2007 2016