rs80338945, GJB2

N. diseases: 32
Disease: hearing impairment ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.720 GeneticVariation BEFREE Subsequent analyses showed that the patients with M34T/35delG and V37I/35delG had significantly later onset of HI than patients with other genotypes (P < 10(-6)) including the L90P/35delG (P = 0.006). 17935238 2007
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.720 GeneticVariation BEFREE Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25-40 dB). 16380907 2005
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.720 CausalMutation CLINVAR