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: rs147876778
rs147876778
0.807 0.120 8 86632864 missense variant C/T snv 4.6E-03 1.8E-03
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018