rs72659306, COL1A2

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 7 94425144 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 1992 1992