CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28
Source: ALL
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: rs104894671
rs104894671
0.851 0.080 19 47836381 missense variant A/C snv
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2000 2000
dbSNP: rs104894672
rs104894672
0.882 0.080 19 47836263 missense variant C/T snv 8.0E-06
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2003 2003
dbSNP: rs104894673
rs104894673
0.776 0.160 19 47839335 missense variant C/T snv 2.1E-05
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs61748436
rs61748436
0.851 0.080 19 47836264 missense variant G/A snv 1.4E-05
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2000 2000
dbSNP: rs61748459
rs61748459
0.882 0.080 19 47839791 missense variant G/A snv 1.2E-03 5.1E-03
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2003 2003