Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs867198716
rs867198716
AVP
0.010 GeneticVariation BEFREE To explain how mutations in αA-crystallin lead to the development of cataract, quaternary structural parameters, and chaperone function have been investigated in αA-wt and in the following mutants: R12C, R21L, R21W, R49C, R54C, R116C, and R116H. 22045060

2012