Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356596
rs80356596
OTOF
0.800 GeneticVariation UNIPROT Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. 26437881

2016
dbSNP: rs80356596
rs80356596
OTOF
0.800 GeneticVariation UNIPROT A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. 18381613

2008
dbSNP: rs80356596
rs80356596
OTOF
0.800 GeneticVariation UNIPROT OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. 16371502

2006
dbSNP: rs80356596
rs80356596
OTOF
0.800 GeneticVariation UNIPROT Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. 16283880

2005
dbSNP: rs80356596
rs80356596
OTOF
0.800 GeneticVariation UNIPROT A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy. 16097006

2005
dbSNP: rs80356596
rs80356596
OTOF
0.800 GeneticVariation UNIPROT Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. 12127154

2002
dbSNP: rs80356596
rs80356596
OTOF
0.800 GeneticVariation UNIPROT A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. 10192385

1999
dbSNP: rs80356596
rs80356596
OTOF
G 0.800 CausalMutation CLINVAR