Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356605
rs80356605
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: rs80356605
rs80356605
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: rs80356605
rs80356605
OTOF
T 0.800 CausalMutation CLINVAR