Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs539699299
rs539699299
SLC26A4 ; SLC26A4-AS1
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.800 GeneticVariation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008
dbSNP: rs539699299
rs539699299
SLC26A4 ; SLC26A4-AS1
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 GeneticVariation UNIPROT 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: rs539699299
rs539699299
SLC26A4 ; SLC26A4-AS1
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 GeneticVariation UNIPROT Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. 14679580

2004