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: rs104893967
rs104893967
0.827 0.080 6 42178374 missense variant A/G snv
CUI: C1867326
Disease: RETINAL CONE DYSTROPHY 1
RETINAL CONE DYSTROPHY 1
Eye Diseases 0.030 1.000 3 1998 2000
dbSNP: rs104893968
rs104893968
0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03
CUI: C1867326
Disease: RETINAL CONE DYSTROPHY 1
RETINAL CONE DYSTROPHY 1
Eye Diseases 0.020 1.000 2 2000 2004
dbSNP: rs121434631
rs121434631
0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06
CUI: C1867326
Disease: RETINAL CONE DYSTROPHY 1
RETINAL CONE DYSTROPHY 1
Eye Diseases 0.010 1.000 1 2005 2005