Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033318
rs111033318
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 GeneticVariation CLINVAR Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. 24007330

2014
dbSNP: rs111033318
rs111033318
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 GeneticVariation CLINVAR Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. 23918157

2013
dbSNP: rs111033318
rs111033318
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 GeneticVariation CLINVAR Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling. 23151025

2012
dbSNP: rs111033318
rs111033318
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 GeneticVariation CLINVAR Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 21961810

2011
dbSNP: rs111033318
rs111033318
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 GeneticVariation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008
dbSNP: rs111033318
rs111033318
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 GeneticVariation CLINVAR GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects. 18274916

2008
dbSNP: rs111033318
rs111033318
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 GeneticVariation CLINVAR A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. 17718863

2007
dbSNP: rs111033318
rs111033318
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 GeneticVariation CLINVAR Functional characterization of pendrin in a polarized cell system. Evidence for pendrin-mediated apical iodide efflux. 14715652

2004
dbSNP: rs111033318
rs111033318
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 GeneticVariation CLINVAR Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. 12676893

2003