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: rs104894912
rs104894912
1.000 0.120 X 154154734 stop gained C/T snv
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0