Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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G | 0.710 | GeneticVariation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
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G | 0.710 | GeneticVariation | CLINVAR | Challenges and solutions for gene identification in the presence of familial locus heterogeneity. | 25491636 | 2015 |
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G | 0.710 | GeneticVariation | CLINVAR | Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. | 25394566 | 2015 |
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G | 0.710 | GeneticVariation | CLINVAR | Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. | 24949729 | 2014 |
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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 |
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G | 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 |
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G | 0.710 | GeneticVariation | CLINVAR | Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. | 11932316 | 2002 |
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G | 0.710 | GeneticVariation | CLINVAR | Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. | 10700480 | 2000 |