Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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|
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | GWASCAT | A genome-wide association study identifies two novel susceptibility loci and trans population polygenicity associated with bipolar disorder. | 28115744 | 2018 | ||||||
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|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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|
C | 0.700 | GeneticVariation | GWASCAT | Association analysis identifies 65 new breast cancer risk loci. | 29059683 | 2017 | ||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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|
|
0.700 | GeneticVariation | GWASCAT | Leveraging Polygenic Functional Enrichment to Improve GWAS Power. | 30595370 | 2019 | |||||||
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|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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|
|
T | 0.700 | GeneticVariation | GWASCAT | Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. | 29942086 | 2018 | ||||||
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|
|
A | 0.700 | GeneticVariation | GWASCAT | A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. | 29326435 | 2019 | ||||||
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|
|
C | 0.700 | GeneticVariation | GWASCAT | A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. | 29326435 | 2019 | ||||||
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|
0.700 | GeneticVariation | GWASCAT | Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. | 29844566 | 2018 | |||||||
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|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. | 20673863 | 2010 | |||||||
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|
|
C | 0.800 | CausalMutation | CLINVAR | |||||||||
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|
|
0.800 | GeneticVariation | UNIPROT | NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. | 26193383 | 2015 | |||||||
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|
|
0.800 | GeneticVariation | UNIPROT | Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. | 22301465 | 2012 | |||||||
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|
|
0.800 | GeneticVariation | UNIPROT | Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. | 26200704 | 2015 |