Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147952620
rs147952620
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014
dbSNP: rs147952620
rs147952620
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. 23918157

2013
dbSNP: rs147952620
rs147952620
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China. 23185506

2012
dbSNP: rs147952620
rs147952620
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 21961810

2011
dbSNP: rs147952620
rs147952620
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.700 GeneticVariation CLINVAR Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. 19648736

2010