Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554360358
rs1554360358
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. 25788563

2015
dbSNP: rs1554360358
rs1554360358
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 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: rs1554360358
rs1554360358
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss. 24105851

2014
dbSNP: rs1554360358
rs1554360358
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. 23705809

2013
dbSNP: rs1554360358
rs1554360358
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. 20583162

2010