Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TC | 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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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | Furthermore, to enhance the pathological properties of α-synuclein, we inserted into SNCA an A53T mutation, two single-nucleotide polymorphisms identified in a genome-wide association study in Parkinson's disease and a Rep1 polymorphism, all of which are causal of familial Parkinson's disease or increase the risk of sporadic Parkinson's disease. | 31816026 | 2020 | |||||||
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0.010 | GeneticVariation | BEFREE | Furthermore, to enhance the pathological properties of α-synuclein, we inserted into SNCA an A53T mutation, two single-nucleotide polymorphisms identified in a genome-wide association study in Parkinson's disease and a Rep1 polymorphism, all of which are causal of familial Parkinson's disease or increase the risk of sporadic Parkinson's disease. | 31816026 | 2020 | |||||||
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TA | 0.700 | CausalMutation | CLINVAR | Aberrant splicing of the CHM gene is a significant cause of choroideremia. | 1302003 | 1992 | ||||||
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0.810 | GeneticVariation | BEFREE | In fact, we also identified a novel REP1 missense variant (c.1520A>G; p.H507R) associated to CHM. | 21905166 | 2011 | |||||||
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0.810 | GeneticVariation | UNIPROT | Missense mutation in the choroideremia gene. | 7951216 | 1994 | |||||||
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0.810 | GeneticVariation | UNIPROT | Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase. | 21905166 | 2011 | |||||||
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0.810 | GeneticVariation | UNIPROT | The functional effect of pathogenic mutations in Rab escort protein 1. | 19427510 | 2009 | |||||||
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C | 0.810 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.710 | CausalMutation | CLINVAR | |||||||||
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0.710 | GeneticVariation | BEFREE | Using Quantitative reverse transcription PCR (RT-qPCR), we show that CHM mRNA expression in blood from nonsense mutation CHM patients is 2.8-fold lower than controls, and varies widely amongst patients, with 40% variation between those carrying the same UGA mutation [c.715 C>T; p.(R239*)</span>]. | 30689859 | 2019 | |||||||
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T | 0.700 | GeneticVariation | CLINVAR | Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. | 16936131 | 2006 |