| 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 | 0.800 | GeneticVariation | CLINVAR | |||||||||
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|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
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|
G | 0.800 | GeneticVariation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
C | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 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 | |||||||||
|
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|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review. | 24357594 | 2014 | |||||||
|
|
|
T | 0.800 | CausalMutation | CLINVAR | De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review. | 24357594 | 2014 | ||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review. | 24357594 | 2014 | |||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | Direct interaction of Ski with either Smad3 or Smad4 is necessary and sufficient for Ski-mediated repression of transforming growth factor-beta signaling. | 12857746 | 2003 | ||||||
|
|
|
T | 0.700 | GeneticVariation | GWASCAT | Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. | 30224653 | 2018 | ||||||
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|
|
C | 0.700 | GeneticVariation | GWASCAT | GWAS identifies 14 loci for device-measured physical activity and sleep duration. | 30531941 | 2018 | ||||||
|
|
|
T | 0.700 | GeneticVariation | GWASCAT | Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. | 29212778 | 2018 |