Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917775
rs121917775
0.800 GeneticVariation UNIPROT Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families. 28450710

2017

dbSNP: rs121917775
rs121917775
0.800 GeneticVariation UNIPROT Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016

dbSNP: rs121917775
rs121917775
0.800 GeneticVariation UNIPROT Dominant cataract formation in association with a vimentin assembly disrupting mutation. 19126778

2009

dbSNP: rs121917775
rs121917775
A 0.800 CausalMutation CLINVAR