| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.710 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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CA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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AG | 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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TG | 0.700 | CausalMutation | CLINVAR | |||||||||
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TG | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. | 8969170 | 1996 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. | 8969170 | 1996 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. | 8969170 | 1996 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. | 8969170 | 1996 | ||||||
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0.800 | GeneticVariation | UNIPROT | A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). | 10930571 | 2000 | |||||||
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0.800 | GeneticVariation | UNIPROT | A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). | 10930571 | 2000 | |||||||
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0.800 | GeneticVariation | UNIPROT | Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. | 11093277 | 2000 | |||||||
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0.800 | GeneticVariation | UNIPROT | Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. | 11093277 | 2000 |