| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | We have demonstrated that the minor allele of rs34396413 was a risk factor of NTD in the Shanxi group, providing new insight into the study of NTD etiology. | 31020390 | 2019 | |||||||
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0.010 | GeneticVariation | BEFREE | The minor allele of rs34396413 significantly increased the risk of NTD in a Han Chinese population of Shanxi Province (P = 0.0082, OR = 1.45, 95%CI = 1.10-1.90), especially the risk of encephalocele for female (P = 0.0064, OR = 2.46, 95%CI = 1.22-4.94). | 31020390 | 2019 | |||||||
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0.010 | GeneticVariation | BEFREE | The minor allele of rs34396413 significantly increased the risk of NTD in a Han Chinese population of Shanxi Province (P = 0.0082, OR = 1.45, 95%CI = 1.10-1.90), especially the risk of encephalocele for female (P = 0.0064, OR = 2.46, 95%CI = 1.22-4.94). | 31020390 | 2019 | |||||||
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GCCGTGCA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.810 | CausalMutation | CLINVAR | A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. | 25590586 | 2015 | ||||||
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0.810 | GeneticVariation | UNIPROT | TFAP2A mutations result in branchio-oculo-facial syndrome. | 18423521 | 2008 | |||||||
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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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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | TFAP2A mutations result in branchio-oculo-facial syndrome. | 18423521 | 2008 |