Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801166
rs1801166
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.090 GeneticVariation BEFREE While wild type APC sequences were found in two mummies, we discovered the E1317Q missense mutation, known to be a colorectal cancer predisposing mutation, in a large intestine tissue of an 18th century mummy. 26863316

2016

dbSNP: rs1801166
rs1801166
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.090 GeneticVariation BEFREE In a large Scottish case-control study, we investigated the effects of adenomatous polyposis coli (APC) Asp1822Val (rs459552) and APC Glu1317Gln substitutions on colorectal cancer (CRC) risk and whether these associations were influenced by lifestyle and dietary factors. 18375958

2008

dbSNP: rs1801166
rs1801166
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.090 GeneticVariation BEFREE When independently assessed in 971 patients with colorectal cancer and 954 healthy control subjects, none of the identified missense APC alterations conferred a significantly increased risk for colorectal cancer, odds ratio (95 percent confidence intervals): S130G = 3.1 (0.29-32.25), E1317Q = 1.08 (0.59-2.74), G2502S = 1 (0.65-1.63), D1822V (heterozygous) = 0.79 (0.64-0.98), D1822V (homozygous) = 0.82 (0.63-1.27). 18612690

2008

dbSNP: rs1801166
rs1801166
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.090 GeneticVariation BEFREE APC E1317Q is not associated with Colorectal Cancer in a population-based case-control study in Northern Israel. 17119068

2007

dbSNP: rs1801166
rs1801166
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.090 GeneticVariation BEFREE APC I1307K and the E1317Q variants are not present in Chinese colorectal cancer patients. 15266213

2005

dbSNP: rs1801166
rs1801166
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.090 GeneticVariation BEFREE In Jewish CRC patients the E1317Q variant plays little if any role in colorectal cancer susceptibility and genetic testing for this variant is not warranted. 15929773

2005

dbSNP: rs1801166
rs1801166
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.090 GeneticVariation BEFREE Two of the missense variants found here, E1317Q and D1822V, have previously been related to a difference in risk of colorectal cancer. 15122587

2004

dbSNP: rs1801166
rs1801166
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.090 GeneticVariation BEFREE APC I1307K and E1317Q variants are rare or do not occur in Swedish colorectal cancer patients. 11267860

2001

dbSNP: rs1801166
rs1801166
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.090 GeneticVariation BEFREE Prevalence of the APC E1317Q variant in colorectal cancer patients. 10737725

2000