| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | SusceptibilityMutation | CLINVAR | The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. | 23896379 | 2013 |
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|
A | 0.800 | SusceptibilityMutation | CLINVAR | To further address the pathogenic significance of I1307K, we offered both a genetic test and a screening program to individuals considered to be at increased risk for colorectal cancer. | 11159880 | 2001 |
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|
A | 0.800 | SusceptibilityMutation | CLINVAR | The I1307K allele was found in 6.1% of unselected Ashkenazi Jews and higher proportions of Ashkenazim with family or personal histories of CRC (ref.2). | 9731533 | 1998 |
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|
A | 0.800 | SusceptibilityMutation | CLINVAR | The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. | 9724771 | 1998 |
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|
A | 0.800 | SusceptibilityMutation | CLINVAR | Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. | 9288102 | 1997 |
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|
T | 0.710 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | GWASCAT | Discovery of common and rare genetic risk variants for colorectal cancer. | 30510241 | 2019 |
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |