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: rs62625014
rs62625014
0.851 0.080 4 47937535 missense variant G/A;C snv 1.1E-03; 2.4E-05
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