Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033243
rs111033243
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.010 GeneticVariation BEFREE The p.F354S variant is already described to be involved in PS or NSHL inheritances. 21045265

2010

dbSNP: rs121908364
rs121908364
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.010 GeneticVariation BEFREE 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: rs201562855
rs201562855
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.010 GeneticVariation BEFREE 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: rs760413427
rs760413427
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.010 GeneticVariation BEFREE 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: rs984967571
rs984967571
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.010 GeneticVariation BEFREE 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: rs1045933779
rs1045933779
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
C 0.700 GeneticVariation CLINVAR Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. 25394566

2015

dbSNP: rs1045933779
rs1045933779
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
C 0.700 GeneticVariation CLINVAR SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. 23336812

2013

dbSNP: rs1045933779
rs1045933779
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
C 0.700 GeneticVariation CLINVAR Significance of unilateral enlarged vestibular aqueduct. 23401162

2013

dbSNP: rs1045933779
rs1045933779
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
C 0.700 GeneticVariation CLINVAR High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. 20146813

2010

dbSNP: rs1057516243
rs1057516243
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: rs1057516243
rs1057516243
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.700 GeneticVariation CLINVAR Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. 24599119

2014

dbSNP: rs1057516243
rs1057516243
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: rs1057516354
rs1057516354
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
C 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: rs1057516535
rs1057516535
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516634
rs1057516634
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516636
rs1057516636
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516658
rs1057516658
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.700 CausalMutation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014

dbSNP: rs1057516678
rs1057516678
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516717
rs1057516717
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516796
rs1057516796
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516881
rs1057516881
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.700 CausalMutation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014

dbSNP: rs1057516881
rs1057516881
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.700 CausalMutation CLINVAR Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. 23918157

2013

dbSNP: rs1057516881
rs1057516881
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.700 CausalMutation CLINVAR Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling. 23151025

2012

dbSNP: rs1057516953
rs1057516953
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.700 CausalMutation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014

dbSNP: rs1057516988
rs1057516988
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
A 0.700 CausalMutation CLINVAR Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct. 26100058

2015