Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35887622
rs35887622
GJB2
G 0.740 CausalMutation CLINVAR Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families. 22668073

2012
dbSNP: rs35887622
rs35887622
GJB2
0.740 GeneticVariation BEFREE This finding apparently could not be explained by low degree of HI associated with M34T and V37I since another mutation causing comparably mild HI (L90P) did not have reduced penetrance. 17935238

2007
dbSNP: rs35887622
rs35887622
GJB2
0.740 GeneticVariation BEFREE These data support the view that M34T is a pathological variant of Cx26 associated with hearing impairment. 16849369

2006
dbSNP: rs35887622
rs35887622
GJB2
G 0.740 CausalMutation CLINVAR Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25-40 dB). 16380907

2005
dbSNP: rs35887622
rs35887622
GJB2
0.740 GeneticVariation BEFREE The next frequent mutation detected in the group of hearing impaired persons was the c.101T>C mutation (9/76 alleles; 11.8%). 12497637

2003
dbSNP: rs35887622
rs35887622
GJB2
0.740 GeneticVariation BEFREE In summary, we provide data that support M34T acting as a recessive GJB2 allele associated with mild-moderate prelingual hearing impairment. 11134236

2001