| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.010 | GeneticVariation | BEFREE | We have studied the coding regions of the DCX gene in 11 Japanese patients with cortical dysplasia and have identified three different mutations (R186C in exon 3, R272X and R303X in exon 5) in four sporadic female cases. | 10369164 | 1999 | |||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR |