rs104894396
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104894397
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104894398
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104894401
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Detection of mutations in genes associated with hearing loss using a microarray-based approach.
|
16931589 |
2006 |
rs104894401
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.
|
12786758 |
2003 |
rs104894401
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.
|
26397989 |
2015 |
rs104894401
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Connexin 26 gene linked to a dominant deafness.
|
9620796 |
1998 |
rs104894401
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.
|
19715472 |
2009 |
rs104894401
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria.
|
17485979 |
2007 |
rs104894401
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
|
11439000 |
2001 |
rs104894401
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).
|
11438992 |
2001 |
rs104894401
|
|
|
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 |
rs104894401
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Molecular genetics study of deafness in Brazil: 8-year experience.
|
17567887 |
2007 |
rs104894401
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
|
10807696 |
2000 |
rs104894401
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
|
11313763 |
2001 |
rs104894401
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.
|
19384972 |
2009 |
rs104894401
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.
|
21040787 |
2011 |
rs104894401
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
|
17666888 |
2007 |
rs104894401
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894401
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.
|
20096356 |
2010 |
rs104894401
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.
|
23856378 |
2013 |
rs104894401
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.
|
22991996 |
2013 |
rs104894401
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
|
11313763 |
2001 |
rs104894402
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
|
11313763 |
2001 |
rs104894402
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.
|
19384972 |
2009 |