Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
T | 0.900 | CausalMutation | CLINVAR | ||||||||||
|
|
G | 0.820 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.800 | CausalMutation | CLINVAR | Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. | 11818965 | 2002 |
|||||||
|
|
T | 0.800 | CausalMutation | CLINVAR | Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer. | 19836313 | 2009 |
|||||||
|
|
T | 0.800 | CausalMutation | CLINVAR | The mean ages of CRC diagnosis in patients were 58 years (homozygous G396D) and 52 years (compound heterozygous G396D/Y179C) versus 46 years (homozygous Y179C; P = .001, linear regression). | 19032956 | 2009 |
|||||||
|
|
T | 0.800 | CausalMutation | CLINVAR | Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. | 19394335 | 2009 |
|||||||
|
|
T | 0.800 | CausalMutation | CLINVAR | Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. | 19732775 | 2009 |
|||||||
|
|
C | 0.800 | CausalMutation | CLINVAR | MUTYH-associated colorectal cancer and adenomatous polyposis. | 23605219 | 2014 |
|||||||
|
|
C | 0.800 | CausalMutation | CLINVAR | Leiden Open Variation Database of the MUTYH gene. | 20725929 | 2010 |
|||||||
|
|
C | 0.800 | CausalMutation | CLINVAR | Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. | 22703879 | 2012 |
|||||||
|
|
C | 0.800 | CausalMutation | CLINVAR | Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. | 19732775 | 2009 |
|||||||
|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
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 |
|||||||
|
|
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 |
|||||||
|
|
A | 0.800 | SusceptibilityMutation | CLINVAR | The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. | 23896379 | 2013 |
|||||||
|
|
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 |
|||||||
|
|
A | 0.800 | SusceptibilityMutation | CLINVAR | Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. | 9288102 | 1997 |