Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122937
rs398122937
0.030 GeneticVariation BEFREE The G143R missense substitution in connexin (Cx) 46 is associated with congenital Coppock cataracts; however, the underlying molecular mechanism is largely unknown. 29298900

2018

dbSNP: rs398122937
rs398122937
0.030 GeneticVariation BEFREE The G143R missense mutation on connexin (Cx) 46 was recently reported to be associated with congenital Coppock cataracts. 24019978

2013

dbSNP: rs398122937
rs398122937
0.030 GeneticVariation BEFREE Direct sequencing of the candidate gene GJA3 (gap junction protein alpha-3) revealed a c.427G>A transition in exon 2 of GJA3 that co-segregated with the cataract in the family members and was not observed in 100 control patients. 22876138

2012