| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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T | 0.810 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. | 19726788 | 2009 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. | 19726788 | 2009 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Vismodegib. | 22679179 | 2012 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Vismodegib. | 22679179 | 2012 | ||||||
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0.010 | GeneticVariation | BEFREE | A subset of meningiomas lacking NF2 alterations harbored recurrent oncogenic mutations in AKT1 (p.Glu17Lys) and SMO (p.Trp535Leu) and exhibited immunohistochemical evidence of activation of these pathways. | 23334667 | 2013 | |||||||
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0.810 | GeneticVariation | UNIPROT | Identification of recurrent SMO and BRAF mutations in ameloblastomas. | 24859340 | 2014 |