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.
Ehlers-Danlos Syndrome
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
14 0.925 0.200 9 134835169 missense variant A/G snv 1.6E-04 3.5E-05 0.010 1.000 1 2019 2019
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 0.925 0.200 9 134835169 missense variant A/G snv 1.6E-04 3.5E-05 0.010 1.000 1 2019 2019