Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255246
rs879255246
G 0.700 CausalMutation CLINVAR Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). 27082237

2016

dbSNP: rs606231410
rs606231410
A 0.700 CausalMutation CLINVAR Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 25633957

2015

dbSNP: rs794729665
rs794729665
G 0.700 CausalMutation CLINVAR A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. 25601850

2015

dbSNP: rs1057519601
rs1057519601
CCAGGCCCGTGCAGCTC 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519603
rs1057519603
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519604
rs1057519604
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519606
rs1057519606
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057519607
rs1057519607
GC 0.700 CausalMutation CLINVAR

dbSNP: rs144964568
rs144964568
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1566538321
rs1566538321
A 0.700 GeneticVariation CLINVAR

dbSNP: rs772862268
rs772862268
A 0.700 GeneticVariation CLINVAR

dbSNP: rs774056663
rs774056663
AATAGTATT 0.700 GeneticVariation CLINVAR

dbSNP: rs878854415
rs878854415
G 0.700 CausalMutation CLINVAR

dbSNP: rs35887622
rs35887622
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
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
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
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

dbSNP: rs121908354
rs121908354
0.020 GeneticVariation BEFREE The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis. 30367262

2019

dbSNP: rs72474224
rs72474224
0.020 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: rs121908354
rs121908354
0.020 GeneticVariation BEFREE Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population. 26264712

2015

dbSNP: rs28931593
rs28931593
0.020 GeneticVariation BEFREE To the best of our knowledge, this is the first report from India on p.R75Q mutation in the GJB2 gene with nonsyndromic hearing loss. 25393658

2015

dbSNP: rs72474224
rs72474224
0.020 GeneticVariation BEFREE The c.235delC mutation showed a particularly wide spectrum of hearing loss, from mild to profound and significantly better hearing thresholds at 250 Hz and 2k Hz than in the non-p.V37I and non-235delC nonsyndromic hearing loss and deafness 1(DFNB1) subjects. 26061264

2015

dbSNP: rs104894396
rs104894396
0.020 GeneticVariation BEFREE This study aims to determine the prevalence of GJB2-35delG, GJB2-167delT, GJB2-235delC, GJB2-W24X, del (GJB6-D13S1830), and del (GJB6-D13S1854) mutations in patients with nonsyndromic deafness in the Espirito Santo State, Brazil. 20563649

2011

dbSNP: rs104894396
rs104894396
0.020 GeneticVariation BEFREE Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania. 20096468

2010

dbSNP: rs28931593
rs28931593
0.020 GeneticVariation BEFREE Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. 15996214

2005