CRYGS, crystallin gamma S, 1427

N. diseases: 15; N. variants: 5
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: rs104893736
rs104893736
0.827 0.040 3 186539566 missense variant C/A snv
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1483130765
rs1483130765
0.925 0.040 3 186538833 stop gained C/A snv 7.0E-06
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
Eye Diseases 0.010 1.000 1 2016 2016