Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338848
rs80338848
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 GeneticVariation BEFREE Together, these data demonstrate that the L236P mouse phenotype is more similar to the human phenotype and should be used as a tool for further research into the human Pendred syndrome. 31155292

2019
dbSNP: rs397516420
rs397516420
SLC26A4 ; SLC26A4-AS1
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 CausalMutation CLINVAR Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. 29196752

2017
dbSNP: rs727505088
rs727505088
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China. 28786104

2017
dbSNP: rs727505088
rs727505088
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR [Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome]. 28604962

2017
dbSNP: rs111033220
rs111033220
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.800 CausalMutation CLINVAR A frequent oligogenic involvement in congenital hypothyroidism. 28444304

2017
dbSNP: rs1345175795
rs1345175795
SLC26A4 ; SLC26A4-AS1
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Application of SNPscan in Genetic Screening for Common Hearing Loss Genes. 27792752

2016
dbSNP: rs111033199
rs111033199
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.810 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 Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. 27771369

2017
dbSNP: rs111033212
rs111033212
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.800 GeneticVariation CLINVAR Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. 27771369

2017
dbSNP: rs1554352718
rs1554352718
SLC26A4 ; SLC26A4-AS1
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. 27771369

2017
dbSNP: rs763006761
rs763006761
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.800 GeneticVariation CLINVAR Genetic causes of moderate to severe hearing loss point to modifiers. 27573290

2017
dbSNP: rs111033220
rs111033220
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.800 CausalMutation CLINVAR Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns. 27541434

2016
dbSNP: rs121908365
rs121908365
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.800 GeneticVariation CLINVAR Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 27344577

2016
dbSNP: rs918684449
rs918684449
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 27344577

2016
dbSNP: rs1205712508
rs1205712508
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay. 27247933

2016
dbSNP: rs1057517042
rs1057517042
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 GeneticVariation CLINVAR Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay. 27247933

2016
dbSNP: rs142656144
rs142656144
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome. 27240500

2016
dbSNP: rs111033199
rs111033199
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.810 GeneticVariation CLINVAR Resistance to hypertension and high Cl- excretion in humans with SLC26A4 mutations. 27090054

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: rs111033316
rs111033316
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.800 GeneticVariation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
dbSNP: rs397516420
rs397516420
SLC26A4 ; SLC26A4-AS1
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 CausalMutation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
dbSNP: rs111033348
rs111033348
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.810 GeneticVariation CLINVAR Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants. 26752218

2016
dbSNP: rs111033199
rs111033199
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis. 26683941

2015
dbSNP: rs111033212
rs111033212
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.800 GeneticVariation CLINVAR Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. 26485571

2016
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 26445815

2015