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: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES
0.800 1.000 7 1999 2012
dbSNP: rs104893618
rs104893618
0.925 2 208129680 missense variant T/G snv
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES
0.700 1.000 7 1999 2012
dbSNP: rs28931604
rs28931604
0.925 0.200 2 208128226 missense variant G/A snv 1.6E-03 1.8E-04
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES
0.700 1.000 7 1999 2012
dbSNP: rs398122392
rs398122392
0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES
0.700 0
dbSNP: rs398122944
rs398122944
0.851 0.200 2 208128257 stop gained C/G;T snv
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES
0.700 0
dbSNP: rs587778872
rs587778872
0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES
0.700 0