Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs192366176
rs192366176
SLC26A4
A 0.700 GeneticVariation CLINVAR An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. 26763877

2016
dbSNP: rs192366176
rs192366176
SLC26A4
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs192366176
rs192366176
SLC26A4
A 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: rs192366176
rs192366176
SLC26A4
A 0.700 GeneticVariation CLINVAR Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients. 23967202

2013
dbSNP: rs192366176
rs192366176
SLC26A4
A 0.700 GeneticVariation CLINVAR Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 21961810

2011
dbSNP: rs192366176
rs192366176
SLC26A4
A 0.700 GeneticVariation CLINVAR Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. 15574297

2005
dbSNP: rs192366176
rs192366176
SLC26A4
A 0.700 GeneticVariation CLINVAR Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. 15679828

2005
dbSNP: rs192366176
rs192366176
SLC26A4
A 0.700 CausalMutation CLINVAR