Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033306
rs111033306
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Etiology and audiological outcomes at 3 years for 364 children in Australia. 23555729

2013
dbSNP: rs111033306
rs111033306
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. 23336812

2013
dbSNP: rs111033306
rs111033306
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. 21704276

2011
dbSNP: rs111033306
rs111033306
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice. 20668687

2010
dbSNP: rs111033306
rs111033306
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. 14679580

2004
dbSNP: rs111033306
rs111033306
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Molecular analysis of the PDS gene in Pendred syndrome. 9618167

1998