rs1459288526, OTOF

N. diseases: 1
Disease: Auditory neuropathy spectrum disorder ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Auditory neuropathy spectrum disorder
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
0.010 GeneticVariation BEFREE Interestingly, two mutations in the OTOF gene were identified in two affected siblings with ANSD from a Chinese family, including one nonsense mutation c.1273C > T (p.R425X) and one missense mutation c.4994 T > C (p.L1665P). 28335750 2017