Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204450
rs786204450
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		TC 0.700 GeneticVariation CLINVAR Identification of two heterozygous deafness mutations in SLC26A4 (PDS) in a Chinese family with two siblings. 23151031

2013
dbSNP: rs786204450
rs786204450
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		TC 0.700 GeneticVariation CLINVAR Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China. 24341454

2013
dbSNP: rs786204450
rs786204450
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		TC 0.700 GeneticVariation CLINVAR Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. 23918157

2013
dbSNP: rs786204450
rs786204450
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		TC 0.700 GeneticVariation CLINVAR Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling. 23151025

2012
dbSNP: rs786204450
rs786204450
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		TC 0.700 GeneticVariation CLINVAR Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 21961810

2011
dbSNP: rs786204450
rs786204450
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		TC 0.700 GeneticVariation CLINVAR Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. 19786220

2009
dbSNP: rs786204450
rs786204450
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		TC 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