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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0.800 | GeneticVariation | UNIPROT | ||||||||||
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A | 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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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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CA | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). | 20206334 | 2010 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). | 20206334 | 2010 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). | 20206334 | 2010 | |||||||
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0.800 | GeneticVariation | UNIPROT | Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. | 20518025 | 2010 | |||||||
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0.800 | GeneticVariation | UNIPROT | Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. | 20518025 | 2010 | |||||||
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0.800 | GeneticVariation | UNIPROT | Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. | 20518025 | 2010 | |||||||
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0.800 | GeneticVariation | UNIPROT | High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. | 20690116 | 2010 | |||||||
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0.800 | GeneticVariation | UNIPROT | High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. | 20690116 | 2010 | |||||||
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0.800 | GeneticVariation | UNIPROT | High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. | 20690116 | 2010 | |||||||
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A | 0.700 | GeneticVariation | GWASCAT | Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. | 21998595 | 2011 | ||||||
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A | 0.700 | GeneticVariation | GWASDB | Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. | 21998595 | 2011 |