Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033220
rs111033220
SLC26A4
0.800 GeneticVariation UNIPROT Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. 12676893

2003
dbSNP: rs111033220
rs111033220
SLC26A4
T 0.800 GeneticVariation CLINVAR Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. 11919333

2002
dbSNP: rs111033220
rs111033220
SLC26A4
T 0.800 GeneticVariation CLINVAR Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. 11932316

2002
dbSNP: rs111033220
rs111033220
SLC26A4
0.800 GeneticVariation UNIPROT Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. 11748854

2001
dbSNP: rs111033220
rs111033220
SLC26A4
0.800 GeneticVariation UNIPROT Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. 10700480

2000
dbSNP: rs111033220
rs111033220
SLC26A4
0.800 GeneticVariation UNIPROT Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. 10190331

1999
dbSNP: rs111033220
rs111033220
SLC26A4
T 0.800 GeneticVariation CLINVAR Two frequent missense mutations in Pendred syndrome. 9618166

1998
dbSNP: rs111033220
rs111033220
SLC26A4
0.800 GeneticVariation UNIPROT A mutation in PDS causes non-syndromic recessive deafness. 9500541

1998
dbSNP: rs111033220
rs111033220
SLC26A4
T 0.800 CausalMutation CLINVAR