Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033313
rs111033313
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 CausalMutation CLINVAR Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling. 23151025

2012
dbSNP: rs111033313
rs111033313
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 CausalMutation CLINVAR Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. 19786220

2009
dbSNP: rs111033313
rs111033313
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR [Genotypic analysis of familial dilated vestibular aqueduct syndrome]. 16711435

2006
dbSNP: rs111033313
rs111033313
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. 15574297

2005
dbSNP: rs111033313
rs111033313
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. 10874637

1999
dbSNP: rs111033313
rs111033313
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 CausalMutation CLINVAR Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. 10874637

1999