rs193922139, 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
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 0.925 0.120 17 50195227 splice region variant C/T snv 0.700 1.000 1 2015 2015
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.925 0.120 17 50195227 splice region variant C/T snv 0.700 0