Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. 15679828

2005
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. 18285825

2008
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. 16950989

2006
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR A mutation in PDS causes non-syndromic recessive deafness. 9500541

1998
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication. 25373420

2014