Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1205712508
rs1205712508
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay. 27247933

2016
dbSNP: rs1205712508
rs1205712508
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014
dbSNP: rs1205712508
rs1205712508
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct. 23385134

2013
dbSNP: rs1205712508
rs1205712508
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 21961810

2011