Gene: CRYGS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893736
rs104893736
CRYGS
0.020 GeneticVariation BEFREE A single point mutation generates the cataract-related variant γS-G18V, dramatically altering the optical properties of the eye lens. 27052457

2016
dbSNP: rs104893736
rs104893736
CRYGS
0.020 GeneticVariation BEFREE The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress. 19558189

2009
dbSNP: rs1483130765
rs1483130765
CRYGS
0.010 GeneticVariation BEFREE Mutational analysis of CRYGD identified a recurrent (p.P24T) mutation in two unrelated families with congenital coralliform cataracts and three novel (p.Q101X, p.E104fsX4 and p.E135X) mutations in three families with congenital nuclear cataracts. 26732753

2016
dbSNP: rs143507827
rs143507827
CRYGS
0.010 GeneticVariation BEFREE The cataract-associated mutant D26G of HGSC is remarkably close to the WT molecule in structural features, with only a microenvironmental change in the packing around the mutation site. 23761725

2013