Variant: rs1020175890

present in Gene: LOC107985991;PAX3 present in Chromosome: 2 Position on Chromosome: 222221362 Alleles of this Variant: C/T

rs1020175890 in LOC107985991;PAX3 gene and Waardenburg Syndrome Type 1 PMID 24651602 2014 American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.