Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142498437
rs142498437
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness. 25290043

2015
dbSNP: rs142498437
rs142498437
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness. 25015771

2014
dbSNP: rs142498437
rs142498437
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR "Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and ""apparent"" thyroid dysgenesis." 24248179

2014
dbSNP: rs142498437
rs142498437
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han. 25266519

2014
dbSNP: rs142498437
rs142498437
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients. 23273637

2013
dbSNP: rs142498437
rs142498437
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 21961810

2011