| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | GeneticVariation | CLINVAR | GESPA: classifying nsSNPs to predict disease association. | 26206375 | 2015 |
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|
A | 0.800 | CausalMutation | CLINVAR | Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas. | 26344056 | 2015 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas. | 26344056 | 2015 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. | 25559809 | 2015 |
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|
A | 0.800 | CausalMutation | CLINVAR | Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. | 25559809 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. | 24501277 | 2014 |
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|
A | 0.800 | CausalMutation | CLINVAR | Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. | 23263490 | 2013 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. | 23263490 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. | 23263490 | 2013 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers. | 23447401 | 2013 |
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|
A | 0.800 | SusceptibilityMutation | CLINVAR |