rs606231410 in
COL11A2 gene and
Nonsyndromic Deafness
PMID 25633957 2015 Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
rs794729665 in
DCDC2 gene and
Nonsyndromic Deafness
PMID 25601850 2015 A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
rs879255246 in
OTOF gene and
Nonsyndromic Deafness
PMID 27082237 2016 Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).