Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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G | 0.700 | CausalMutation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
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G | 0.700 | CausalMutation | CLINVAR | Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. | 24629175 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. | 24388329 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Shwachman-Diamond syndrome: diarrhea, no longer required? | 22935661 | 2013 |
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G | 0.700 | CausalMutation | CLINVAR | Shwachman-Diamond syndrome: diarrhea, no longer required? | 22935661 | 2013 |
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G | 0.700 | CausalMutation | CLINVAR | Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome. | 22934832 | 2012 |
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G | 0.700 | CausalMutation | CLINVAR | Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. | 21695142 | 2011 |
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G | 0.700 | CausalMutation | CLINVAR | Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. | 21695142 | 2011 |
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G | 0.700 | CausalMutation | CLINVAR | The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome. | 19148133 | 2009 |
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G | 0.700 | CausalMutation | CLINVAR | The Shwachman-Diamond SBDS protein localizes to the nucleolus. | 15860664 | 2005 |
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G | 0.700 | CausalMutation | CLINVAR | Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. | 14749921 | 2004 |
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G | 0.700 | CausalMutation | CLINVAR | Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. | 14749921 | 2004 |
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G | 0.700 | CausalMutation | CLINVAR | Mutations in SBDS are associated with Shwachman-Diamond syndrome. | 12496757 | 2003 |
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G | 0.700 | CausalMutation | CLINVAR | Mutations in SBDS are associated with Shwachman-Diamond syndrome. | 12496757 | 2003 |
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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 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | SusceptibilityMutation | CLINVAR | ||||||||||
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G | 0.700 | CausalMutation | CLINVAR |