Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs761033636
1.000 0.120 1 42766971 start lost T/C;G snv 4.3E-06
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2018 2018