Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909057
rs121909057
POU4F3
0.020 GeneticVariation BEFREE A novel mutation (L223P) in POU4F3 segregated with hearing impairment in the present family. 19462854

2009
dbSNP: rs121909057
rs121909057
POU4F3
0.020 GeneticVariation BEFREE Mutation analysis of the POU4F3 gene in 30 patients suffering from dominantly inherited hearing impairment revealed a second novel missense mutation (c.668T>C), resulting in the substitution of a proline for a leucine residue (p.L223P) within the POU-specific DNA-binding domain of the protein. 18228599

2008