CRYGC, crystallin gamma C, 1420

N. diseases: 60; N. variants: 13
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: rs137853924
rs137853924
0.851 0.200 2 208128343 missense variant C/A;T snv
CUI: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs398122392
rs398122392
0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06
CUI: C0086543
Disease: Cataract
Cataract
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: C0086543
Disease: Cataract
Cataract
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: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs61751949
rs61751949
0.925 0.200 2 208129550 missense variant C/T snv 1.7E-02 1.1E-02
CUI: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs750872744
rs750872744
0.925 0.040 2 208128325 stop gained C/A;T snv 3.6E-05
CUI: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.010 1.000 1 2016 2016