| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 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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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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GCCGTGCA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | Further delineation of the branchio-oculo-facial syndrome. | 7747785 | 1995 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Further delineation of the branchio-oculo-facial syndrome. | 7747785 | 1995 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Further delineation of the branchio-oculo-facial syndrome. | 7747785 | 1995 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Further delineation of the branchio-oculo-facial syndrome. | 7747785 | 1995 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Further delineation of the branchio-oculo-facial syndrome. | 7747785 | 1995 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Further delineation of the branchio-oculo-facial syndrome. | 7747785 | 1995 | ||||||
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0.810 | GeneticVariation | UNIPROT | TFAP2A mutations result in branchio-oculo-facial syndrome. | 18423521 | 2008 | |||||||
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0.800 | GeneticVariation | UNIPROT | TFAP2A mutations result in branchio-oculo-facial syndrome. | 18423521 | 2008 | |||||||
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0.800 | GeneticVariation | UNIPROT | TFAP2A mutations result in branchio-oculo-facial syndrome. | 18423521 | 2008 | |||||||
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A | 0.700 | GeneticVariation | CLINVAR | Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. | 19764023 | 2009 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. | 19764023 | 2009 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. | 19764023 | 2009 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. | 19764023 | 2009 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. | 19764023 | 2009 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. | 19764023 | 2009 | ||||||
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0.810 | GeneticVariation | BEFREE | DNA analysis of the TFAP2A gene associated with BOFS using DNA sequencing detected a mutation [c.763A>G (p.Arg255Gly)] in two unrelated patients. | 20358615 | 2010 | |||||||
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A | 0.700 | GeneticVariation | CLINVAR | Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome. | 20358615 | 2010 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome. | 20358615 | 2010 |