Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204600
rs786204600
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. 24051746

2013
dbSNP: rs786204600
rs786204600
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome. 16053392

2005