Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145254330
rs145254330
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.800 GeneticVariation CLINVAR Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. 27771369

2017
dbSNP: rs145254330
rs145254330
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.800 GeneticVariation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
dbSNP: rs145254330
rs145254330
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.800 GeneticVariation CLINVAR SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. 16570074

2006
dbSNP: rs145254330
rs145254330
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		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: rs145254330
rs145254330
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.800 GeneticVariation CLINVAR Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. 10700480

2000
dbSNP: rs145254330
rs145254330
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.800 CausalMutation CLINVAR