Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801166
rs1801166
APC
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 GeneticVariation BEFREE These data support a novel mechanism in which p.Glu1317Gln in combination with other weak mutant APC alleles (generating polypepetides with zero, two, or three 20AARs) can provide the necessary growth advantage for colorectal tumorigenesis. 19701947

2009

dbSNP: rs1801166
rs1801166
APC
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 GeneticVariation BEFREE However, when we used normal colonoscopy controls (E1317Q carrier frequency = 0.3%), the prevalence of E1317Q was significantly increased in CRC patients, in patients with < or =3 adenomas, and in CRC patients with intact mismatch repair status, suggesting a possible role for E1317Q in colorectal tumorigenesis. 14578138

2003