rs104894408
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
|
15365987 |
2004 |
rs104894408
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
|
17041943 |
2006 |
rs104894408
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
|
25288386 |
2014 |
rs104894408
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.
|
26252218 |
2015 |
rs104894408
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
|
17666888 |
2007 |
rs104894409
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss.
|
18472371 |
2008 |
rs104894409
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
|
24774219 |
2014 |
rs104894409
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
|
17660464 |
2007 |
rs104894409
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.
|
23668481 |
2013 |
rs1057517491
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057517508
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057517519
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.
|
24256046 |
2014 |
rs1057517519
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions.
|
16217030 |
2005 |
rs1057517519
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
GJB2 mutations and degree of hearing loss: a multicenter study.
|
16380907 |
2005 |
rs1057517519
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
|
11313763 |
2001 |
rs1057517519
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.
|
25401782 |
2014 |
rs1057517521
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
|
15967879 |
2005 |
rs1064797088
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1064797089
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1064797090
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1064797090
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss.
|
20863150 |
2011 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.
|
11584050 |
2001 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
|
25388846 |
2015 |
rs111033190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
|
17935238 |
2007 |