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: rs117522010
rs117522010
0.925 0.120 2 98396575 missense variant G/A;T snv 1.6E-05
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
Eye Diseases 0.700 1.000 1 2008 2008
dbSNP: rs146195955
rs146195955
0.925 0.120 2 98396137 missense variant G/C snv 7.6E-05 3.2E-04
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
Eye Diseases 0.700 0