Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204421
rs786204421
SLC26A4 ; SLC26A4-AS1
G 0.700 GeneticVariation CLINVAR Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients. 23273637

2013
dbSNP: rs786204421
rs786204421
SLC26A4 ; SLC26A4-AS1
G 0.700 GeneticVariation 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
dbSNP: rs786204421
rs786204421
SLC26A4 ; SLC26A4-AS1
G 0.700 GeneticVariation CLINVAR Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. 17940114

2008
dbSNP: rs786204421
rs786204421
SLC26A4 ; SLC26A4-AS1
G 0.700 GeneticVariation CLINVAR Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene. 9920104

1999
dbSNP: rs786204421
rs786204421
SLC26A4 ; SLC26A4-AS1
G 0.700 CausalMutation CLINVAR