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: rs1432600424
rs1432600424
0.882 0.120 2 96799118 stop gained C/G;T snv 7.0E-06
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
Eye Diseases 0.700 0