Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 GeneticVariation BEFREE The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients. 17322586

2006
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 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: rs111033307
rs111033307
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 GeneticVariation BEFREE This study also revealed the first case of a de novo recessive mutation p.Q413P causing PS that arose in the proband's paternal allele, the maternal one carrying the p.L445W. 18285825

2008
dbSNP: rs111033307
rs111033307
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 GeneticVariation BEFREE A single Pendred syndrome (PDS) gene mutation, L445W, was found. 20822748

2010
dbSNP: rs80338848
rs80338848
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 GeneticVariation BEFREE Together, these data demonstrate that the L236P mouse phenotype is more similar to the human phenotype and should be used as a tool for further research into the human Pendred syndrome. 31155292

2019
dbSNP: rs28939086
rs28939086
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 GeneticVariation BEFREE Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. 15531480

2004
dbSNP: rs121908363
rs121908363
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 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: rs111033348
rs111033348
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 GeneticVariation BEFREE Hearing impairment was caused in one family by a novel mutation in the recently identified OTOF (the DFNB9 gene), by a novel Pendred syndrome mutation (Thr193Ile) in another family, and by a GJB2 mutation (35delG also known as 30delG) in the third family. 10878664

2000
dbSNP: rs111033257
rs111033257
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 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: rs111033256
rs111033256
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 GeneticVariation BEFREE As p.V239D (30%), p.S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for DFNB4 deafness and PDS in Pakistanis. 19287372

2009
dbSNP: rs111033199
rs111033199
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 GeneticVariation BEFREE Because V138F was found in the German patients with Pendred's syndrome on at least one allele, we genotyped five microsatellite markers located in the PDS region. 12788906

2003
dbSNP: rs768471577
rs768471577
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.710 GeneticVariation BEFREE As p.V239D (30%), p.S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for DFNB4 deafness and PDS in Pakistanis. 19287372

2009
dbSNP: rs370588279
rs370588279
SLC26A4 ; SLC26A4-AS1
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.710 GeneticVariation BEFREE As p.V239D (30%), p.S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for DFNB4 deafness and PDS in Pakistanis. 19287372

2009
dbSNP: rs121908361
rs121908361
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.710 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
SLC26A4
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
SLC26A4
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
SLC26A4
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: rs121908364
rs121908364
SLC26A4
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: rs111033243
rs111033243
SLC26A4
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: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.820 CausalMutation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.820 GeneticVariation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.820 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: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.820 CausalMutation CLINVAR Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. 24007330

2014
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.820 CausalMutation CLINVAR A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. 17718863

2007
dbSNP: rs111033307
rs111033307
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.820 CausalMutation CLINVAR Two missense mutations in SLC26A4 gene: a molecular and functional study. 20128824

2010