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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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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CCCGGG | 0.700 | CausalMutation | CLINVAR | |||||||||
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TCCCGG | 0.700 | GeneticVariation | CLINVAR | MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. | 16415886 | 2006 | ||||||
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TCCCGG | 0.700 | GeneticVariation | CLINVAR | MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. | 16415886 | 2006 | ||||||
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TCCCGG | 0.700 | GeneticVariation | CLINVAR | MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. | 16415886 | 2006 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. | 16415886 | 2006 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. | 16415886 | 2006 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. | 16415886 | 2006 | ||||||
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0.700 | GeneticVariation | UNIPROT | MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. | 16415886 | 2006 | |||||||
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G | 0.700 | GeneticVariation | CLINVAR | Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. | 17397051 | 2007 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. | 17397051 | 2007 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. | 17397051 | 2007 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. | 17397051 | 2007 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. | 17397051 | 2007 | ||||||
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0.700 | GeneticVariation | UNIPROT | Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? | 19466712 | 2009 | |||||||
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A | 0.700 | CausalMutation | CLINVAR | Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. | 26092869 | 2015 | ||||||
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0.700 | GeneticVariation | UNIPROT | MKS1 regulates ciliary INPP5E levels in Joubert syndrome. | 26490104 | 2016 | |||||||
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A | 0.700 | GeneticVariation | GWASCAT | A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. | 26634245 | 2015 | ||||||
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A | 0.700 | GeneticVariation | GWASCAT | A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. | 26634245 | 2015 |