rs193922148, COL1A1

N. diseases: 1
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 1.000 0.120 17 50190360 frameshift variant A/- del 0.700 0