Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370588279
rs370588279
T 0.710 GeneticVariation CLINVAR [An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China]. 20842945

2010

dbSNP: rs370588279
rs370588279
0.710 GeneticVariation BEFREE As p.V239D (30%), p.S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for DFNB4 deafness and PDS in Pakistanis. 19287372

2009

dbSNP: rs370588279
rs370588279
T 0.710 GeneticVariation CLINVAR As p.V239D (30%), p.S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for DFNB4 deafness and PDS in Pakistanis. 19287372

2009

dbSNP: rs370588279
rs370588279
T 0.710 GeneticVariation CLINVAR Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. 17443271

2007

dbSNP: rs370588279
rs370588279
T 0.710 GeneticVariation CLINVAR Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. 12676893

2003