| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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T | 0.720 | CausalMutation | CLINVAR | ||||||||||
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0.720 | GeneticVariation | BEFREE | Primary tail fibroblast cultures from K577M-WRN mice showed three characteristics of WS cells: hypersensitivity to 4-nitroquinoline-1-oxide (4NQO), reduced replicative potential, and reduced expression of the endogenous WRN protein. | 10628995 | 2000 |
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0.720 | GeneticVariation | BEFREE | Inhibition of endogenous WRN, through co-expression of WRN(K577M), diminishes recruitment of p300/CREB-binding protein-associated factor (PCAF) and positive transcription elongation factor b (P-TEFb) to Tat/transactivation response-RNA complexes, and immortalized WRN(-/-) WS fibroblasts exhibit comparable defects in recruitment of PCAF and P-TEFb to the HIV-1 LTR. | 17317667 | 2007 |
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T | 0.710 | CausalMutation | CLINVAR | A WS patient with an Arg987Ter mutation has been previously reported in Switzerland, the present case is the first to be identified in Asia. | 22188495 | 2012 |
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0.710 | GeneticVariation | BEFREE | A WS patient with an Arg987Ter mutation has been previously reported in Switzerland, the present case is the first to be identified in Asia. | 22188495 | 2012 |
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T | 0.710 | GeneticVariation | CLINVAR | The spectrum of WRN mutations in Werner syndrome patients. | 16673358 | 2006 |
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T | 0.710 | GeneticVariation | CLINVAR | A WS patient with an Arg987Ter mutation has been previously reported in Switzerland, the present case is the first to be identified in Asia. | 22188495 | 2012 |
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TTA | 0.700 | CausalMutation | CLINVAR | ||||||||||
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G | 0.700 | CausalMutation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | Werner syndrome and mutations of the WRN and LMNA genes in France. | 16786514 | 2006 |
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G | 0.700 | CausalMutation | CLINVAR | Werner syndrome and mutations of the WRN and LMNA genes in France. | 16786514 | 2006 |
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C | 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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TA | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | The spectrum of WRN mutations in Werner syndrome patients. | 16673358 | 2006 |
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis. | 18810497 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population. | 9225981 | 1997 |
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
G | 0.700 | GeneticVariation | CLINVAR | The spectrum of WRN mutations in Werner syndrome patients. | 16673358 | 2006 |
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|
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T | 0.700 | CausalMutation | CLINVAR | WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. | 20443122 | 2010 |
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C | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
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T | 0.700 | CausalMutation | CLINVAR |