Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146281367
rs146281367
SLC26A4
T 0.700 GeneticVariation CLINVAR "Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and ""apparent"" thyroid dysgenesis." 24248179

2014
dbSNP: rs146281367
rs146281367
SLC26A4
T 0.700 GeneticVariation CLINVAR Functional characterization of pendrin mutations found in the Israeli and Palestinian populations. 22116360

2011
dbSNP: rs146281367
rs146281367
SLC26A4
T 0.700 GeneticVariation CLINVAR Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. 18813951

2009
dbSNP: rs146281367
rs146281367
SLC26A4
T 0.700 GeneticVariation CLINVAR Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. 16460646

2006
dbSNP: rs146281367
rs146281367
SLC26A4
T 0.700 CausalMutation CLINVAR