PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: Progressive cataract ×
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: rs1131692297
rs1131692297 		0.882 0.080 11 31801653 stop gained G/A snv
CUI: C4021566
Disease: Progressive cataract
Progressive cataract 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121907914
rs121907914 		0.882 0.080 11 31801611 stop gained G/A snv
CUI: C4021566
Disease: Progressive cataract
Progressive cataract 		Eye Diseases 0.010 1.000 1 2012 2012