Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801155
rs1801155
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.800 SusceptibilityMutation CLINVAR The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. 23896379

2013
dbSNP: rs1801155
rs1801155
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		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
dbSNP: rs1801155
rs1801155
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		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
dbSNP: rs1801155
rs1801155
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		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
dbSNP: rs1801155
rs1801155
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.800 SusceptibilityMutation CLINVAR Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. 9288102

1997