Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768471577
rs768471577
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.710 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs768471577
rs768471577
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.710 GeneticVariation CLINVAR Challenges and solutions for gene identification in the presence of familial locus heterogeneity. 25491636

2015
dbSNP: rs768471577
rs768471577
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.710 GeneticVariation CLINVAR Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. 25394566

2015
dbSNP: rs768471577
rs768471577
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.710 GeneticVariation CLINVAR Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 24949729

2014
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: rs768471577
rs768471577
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.710 GeneticVariation CLINVAR 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: rs768471577
rs768471577
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.710 GeneticVariation CLINVAR Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. 11932316

2002
dbSNP: rs768471577
rs768471577
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.710 GeneticVariation CLINVAR Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. 10700480

2000