Variant: rs397517920 

    present in Gene: LOC105375894;EYA1
    present in Chromosome: 8
    Position on Chromosome: 71199371
    Alleles of this Variant: A/G

rs397517920 in LOC105375894;EYA1 gene and Branchiootorenal Syndrome 1 PMID 10464653 1999 Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.

PMID 11558900 2001 Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.

PMID 10991693 2000 Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.

PMID 10655545 2000 Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.

PMID 21280147 2011 Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.

PMID 9361030 1997 Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.