Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727505088
rs727505088
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China. 28786104

2017
dbSNP: rs727505088
rs727505088
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR [Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome]. 28604962

2017
dbSNP: rs727505088
rs727505088
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss. 25149764

2014
dbSNP: rs727505088
rs727505088
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014
dbSNP: rs727505088
rs727505088
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.700 GeneticVariation CLINVAR Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. 23918157

2013