|
rs1057517042
|
|
Pendred's syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.
|
27247933 |
2016 |
|
rs1057517042
|
|
Pendred's syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
|
16570074 |
2006 |
|
rs1057517042
|
|
Pendred's syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.
|
23385134 |
2013 |
|
rs1057517042
|
|
Pendred's syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.
|
19040761 |
2008 |
|
rs1057517042
|
|
Pendred's syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct.
|
22289209 |
2012 |
|
rs1057517042
|
|
Pendred's syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.
|
19786220 |
2009 |
|
rs1057517161
|
|
Pendred's syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss.
|
25149764 |
2014 |
|
rs1057517161
|
|
Pendred's syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.
|
23918157 |
2013 |
|
rs1057517161
|
|
Pendred's syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
|
25372295 |
2014 |
|
rs1057517246
|
|
Pendred's syndrome
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1057517298
|
|
Pendred's syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1057517303
|
|
Pendred's syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.
|
23185506 |
2012 |
|
rs1057517303
|
|
Pendred's syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss.
|
24105851 |
2014 |
|
rs1057517303
|
|
Pendred's syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
|
25788563 |
2015 |
|
rs1060499807
|
|
Pendred's syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1060499808
|
|
Pendred's syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
|
15355436 |
2004 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Two frequent missense mutations in Pendred syndrome.
|
9618166 |
1998 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
|
24224479 |
2014 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.
|
23273637 |
2013 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
|
19204907 |
2009 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
We therefore concluded that V138F is a founder mutation in our cohort of German families with Pendred's syndrome.
|
12788906 |
2003 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.
|
11932316 |
2002 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
|
18285825 |
2008 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
|
16570074 |
2006 |