Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204474
rs786204474
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum. 24612839

2014
dbSNP: rs786204474
rs786204474
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome. 23838540

2013
dbSNP: rs786204474
rs786204474
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes. 23266159

2013
dbSNP: rs786204474
rs786204474
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China. 24341454

2013
dbSNP: rs786204474
rs786204474
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. 23918157

2013
dbSNP: rs786204474
rs786204474
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling. 23151025

2012
dbSNP: rs786204474
rs786204474
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation 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
dbSNP: rs786204474
rs786204474
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 21961810

2011
dbSNP: rs786204474
rs786204474
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR [Sequencing analysis of whole SLC26A4 gene in severe to profound sensorineural hearing loss patients with IVS7-2A to G mutation of the gene]. 21154317

2010
dbSNP: rs786204474
rs786204474
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan. 17697873

2007