Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908363
rs121908363
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014
dbSNP: rs121908363
rs121908363
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene. 20826203

2010
dbSNP: rs121908363
rs121908363
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations. 17851929

2007
dbSNP: rs121908363
rs121908363
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. 16570074

2006
dbSNP: rs121908363
rs121908363
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. 15679828

2005
dbSNP: rs121908363
rs121908363
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		T 0.810 CausalMutation CLINVAR Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. 11748854

2001