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: rs397515360
rs397515360
0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019