CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28
Disease: Leber Congenital Amaurosis ×
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: rs869312175
rs869312175 		1.000 0.040 19 47839715 frameshift variant C/- del
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs61748449
rs61748449 		1.000 0.040 19 47839594 frameshift variant G/- delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs104894673
rs104894673 		0.776 0.160 19 47839335 missense variant C/T snv 2.1E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.030 1.000 3 1999 2019
dbSNP: rs104894671
rs104894671 		0.851 0.080 19 47836381 missense variant A/C snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.010 1.000 1 2000 2000