| 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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T | 0.700 | GeneticVariation | CLINVAR | Regulation of BLM Nucleolar Localization. | 27657136 | 2016 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. | 9388480 | 1997 | ||||||
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|
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T | 0.700 | GeneticVariation | CLINVAR | Localization of the Bloom syndrome helicase to punctate nuclear structures and the nuclear matrix and regulation during the cell cycle: comparison with the Werner's syndrome helicase. | 10569803 | 1999 | ||||||
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CT | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 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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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Three new BLM gene mutations associated with Bloom syndrome. | 18471088 | 2008 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Immunodeficiency in Bloom's Syndrome. | 29098565 | 2018 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. | 17407155 | 2007 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. | 17407155 | 2007 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. | 27356891 | 2016 | ||||||
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TA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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GGC | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TCTTA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR |