Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35887622
rs35887622
GJB2
0.040 GeneticVariation BEFREE We concluded that p.Met34Thr and p.Val37Ile variants in GJB2 are pathogenic for autosomal recessive nonsyndromic hearing loss with variable expressivity and incomplete penetrance. 31160754

2019
dbSNP: rs35887622
rs35887622
GJB2
0.040 GeneticVariation BEFREE To estimate the prevalence of 35delG and Met34Thr variants in a Portuguese children's community sample and to compare these frequencies with nonsyndromic hearing-loss patients. 26482070

2015
dbSNP: rs35887622
rs35887622
GJB2
0.040 GeneticVariation BEFREE One of the more controversial allele variants, M34T, has been hypothesized to cause autosomal dominant nonsyndromic hearing loss. 11216656

2000
dbSNP: rs35887622
rs35887622
GJB2
0.040 GeneticVariation BEFREE The missense mutation 101T-->C has been reported to be a dominant allele of DFNA3, a dominant nonsyndromic hearing loss. 9529365

1998