Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757820624
rs757820624
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Challenges and solutions for gene identification in the presence of familial locus heterogeneity. 25491636

2015
dbSNP: rs757820624
rs757820624
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. 24224479

2014
dbSNP: rs757820624
rs757820624
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. 19509082

2009
dbSNP: rs757820624
rs757820624
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. 19017801

2008
dbSNP: rs757820624
rs757820624
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		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: rs757820624
rs757820624
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 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