CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28
Disease: Amaurosis congenita of Leber, type 1 ×
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: rs104894673
rs104894673 		0.776 0.160 19 47839335 missense variant C/T snv 2.1E-05
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.030 1.000 3 1999 2014