Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307126
rs1085307126
BFSP1
0.700 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: rs1085307126
rs1085307126
BFSP1
0.700 GeneticVariation UNIPROT A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. 24379646

2013
dbSNP: rs1085307126
rs1085307126
BFSP1
0.700 GeneticVariation UNIPROT Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. 17225135

2007