Variant: rs121912952 

    present in Gene: COL11A2
    present in Chromosome: 6
    Position on Chromosome: 33178143
    Alleles of this Variant: G/T

rs121912952 in COL11A2 gene and Deafness, Autosomal Recessive 53 PMID 25633957 2015 Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

PMID 16033917 2005 Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.