Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376653349
rs376653349
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 CausalMutation CLINVAR Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. 24224479

2014
dbSNP: rs376653349
rs376653349
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 CausalMutation CLINVAR Etiology and audiological outcomes at 3 years for 364 children in Australia. 23555729

2013
dbSNP: rs376653349
rs376653349
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 CausalMutation CLINVAR SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. 23336812

2013
dbSNP: rs376653349
rs376653349
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 CausalMutation CLINVAR SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. 16570074

2006