Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35887622
rs35887622
CUI: C1384666
Disease: hearing impairment
hearing impairment
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
CUI: C1384666
Disease: hearing impairment
hearing impairment
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