| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
TAGATTC | 0.700 | CausalMutation | CLINVAR | Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. | 23225144 | 2013 |
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TAGATTC | 0.700 | CausalMutation | CLINVAR | A common nonsense mutation of the BLM gene and prostate cancer risk and survival. | 24096176 | 2013 |
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TAGATTC | 0.700 | CausalMutation | CLINVAR | High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. | 21815139 | 2012 |
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|
TAGATTC | 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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|
TAGATTC | 0.700 | CausalMutation | CLINVAR | Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development. | 15726604 | 2005 |
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|
TAGATTC | 0.700 | CausalMutation | CLINVAR | Heterozygosity for the BLM(Ash) mutation and cancer risk. | 12702560 | 2003 |
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TAGATTC | 0.700 | CausalMutation | CLINVAR | BLM heterozygosity and the risk of colorectal cancer. | 12242432 | 2002 |
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|
TAGATTC | 0.700 | CausalMutation | CLINVAR | Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews. | 10090915 | 1999 |
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TAGATTC | 0.700 | CausalMutation | CLINVAR | A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene. | 9482582 | 1998 |
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TAGATTC | 0.700 | CausalMutation | CLINVAR | The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. | 9837821 | 1998 |
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|
TAGATTC | 0.700 | CausalMutation | CLINVAR | The Bloom's syndrome gene product is homologous to RecQ helicases. | 7585968 | 1995 |