rs121908362
|
|
G |
0.820 |
GeneticVariation |
CLINVAR |
Heterogeneity in the processing defect of SLC26A4 mutants.
|
18310264 |
2008 |
rs111033199
|
|
C |
0.810 |
GeneticVariation |
CLINVAR |
Resistance to hypertension and high Cl- excretion in humans with SLC26A4 mutations.
|
27090054 |
2017 |
rs111033199
|
|
C |
0.810 |
GeneticVariation |
CLINVAR |
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
|
27771369 |
2017 |
rs111033199
|
|
C |
0.810 |
GeneticVariation |
CLINVAR |
Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.
|
19645628 |
2009 |
rs111033256
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.
|
16460646 |
2006 |
rs111033256
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
|
23965030 |
2013 |
rs111033256
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.
|
12974744 |
2003 |
rs111033256
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
|
12676893 |
2003 |
rs111033256
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
|
23336812 |
2013 |
rs111033256
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
As p.V239D (30%), p.S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for DFNB4 deafness and PDS in Pakistanis.
|
19287372 |
2009 |
rs111033256
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
SLC26A4 mutations in patients with moderate to severe hearing loss.
|
23504402 |
2013 |
rs111033256
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.
|
22116360 |
2011 |
rs111033257
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Two frequent missense mutations in Pendred syndrome.
|
9618166 |
1998 |
rs111033257
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.
|
19578036 |
2009 |
rs111033257
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.
|
19040761 |
2008 |
rs111033257
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
|
11317356 |
2001 |
rs111033257
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Molecular and functional characterization of human pendrin and its allelic variants.
|
22116358 |
2011 |
rs111033257
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.
|
19620588 |
2009 |
rs111033257
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
|
14679580 |
2004 |
rs111033257
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.
|
24599119 |
2014 |
rs111033257
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.
|
15689455 |
2005 |
rs111033257
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
|
19204907 |
2009 |
rs111033257
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
|
14508505 |
2003 |
rs111033257
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Pathogenetics of the human SLC26 transporters.
|
15720248 |
2005 |
rs111033257
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.
|
22384008 |
2012 |