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: rs1559193213
rs1559193213
0.807 0.160 2 166036149 frameshift variant -/G delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0