CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28
Disease: Cone-Rod Dystrophy 2 ×
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: rs104894672
rs104894672 		0.882 0.080 19 47836263 missense variant C/T snv 8.0E-06
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.820 1.000 6 1997 2019
dbSNP: rs104894671
rs104894671 		0.851 0.080 19 47836381 missense variant A/C snv
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.810 1.000 5 1997 2000
dbSNP: rs61748459
rs61748459 		0.882 0.080 19 47839791 missense variant G/A snv 1.2E-03 5.1E-03
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.720 1.000 6 1997 2003
dbSNP: rs61748436
rs61748436 		0.851 0.080 19 47836264 missense variant G/A snv 1.4E-05
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2000 2000
dbSNP: rs1568626209
rs1568626209 		1.000 0.080 19 47839569 frameshift variant G/- del
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs281865516
rs281865516 		1.000 0.080 19 47839678 frameshift variant C/- delins
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs104894673
rs104894673 		0.776 0.160 19 47839335 missense variant C/T snv 2.1E-05
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014