ERCC6, ERCC excision repair 6, chromatin remodeling factor, 2074
N. diseases: 257; N. variants: 91
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex. | 21143350 | 2011 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response. | 18784753 | 2008 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. | 19894250 | 2010 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TGG | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TTC | 0.700 | GeneticVariation | CLINVAR | Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. | 19894250 | 2010 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TG | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. | 19894250 | 2010 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TT | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. | 19894250 | 2010 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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GC | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR |