VPS11, VPS11 core subunit of CORVET and HOPS complexes, 55823
N. diseases: 79; N. variants: 6
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.710 | GeneticVariation | BEFREE | Using whole exome sequencing (WES), we identified homozygosity for a missense variant, VPS11: c.2536T>G (p.C846G), as the genetic cause of a leukoencephalopathy syndrome in five individuals from three unrelated Ashkenazi Jewish (AJ) families. | 27120463 | 2016 | |||||||
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G | 0.710 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | GWASCAT | Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. | 30239722 | 2019 | ||||||
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T | 0.700 | GeneticVariation | GWASCAT | Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. | 30239722 | 2019 | ||||||
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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 | GWASCAT | Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. | 29212778 | 2018 | ||||||
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G | 0.700 | GeneticVariation | GWASCAT | Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. | 29273807 | 2018 | ||||||
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0.700 | GeneticVariation | GWASDB | Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. | 23063622 | 2012 | |||||||
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0.700 | GeneticVariation | GWASDB | Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. | 23063622 | 2012 | |||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR |