CRYGC, crystallin gamma C, 1420

N. diseases: 60; N. variants: 13
Disease: Bilateral cataracts (disorder) ×
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: rs398122392
rs398122392 		0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs398122944
rs398122944 		0.851 0.200 2 208128257 stop gained C/G;T snv
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs587778872
rs587778872 		0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs750872744
rs750872744 		0.925 0.040 2 208128325 stop gained C/A;T snv 3.6E-05
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2016 2016