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 |
rs104894413
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894413
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894413
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
|
11313763 |
2001 |
rs104894413
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.
|
12786758 |
2003 |
rs104894413
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Connexin 26 gene linked to a dominant deafness.
|
9620796 |
1998 |
rs104894413
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
|
10807696 |
2000 |
rs104894413
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
|
11439000 |
2001 |
rs104894413
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.
|
19384972 |
2009 |
rs104894413
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
|
12668604 |
2003 |
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 |
|
|
|