Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1323151304
rs1323151304
POLE
0.010 GeneticVariation BEFREE Here, we identified a germline frameshift variation in the POLE gene (c.4191_4192delCT, p.Tyr1398*) in a case with multiple adenomatous polyps and three synchronous colon cancers. 31089268

2019
dbSNP: rs267606659
rs267606659
APCDD1
0.010 GeneticVariation BEFREE Using genetic linkage analysis, we mapped a new locus for the disease to chromosome 18p11.22, and identified a mutation (Leu9Arg) in the adenomatosis polyposis down-regulated 1 (APCDD1) gene in three families. 20393562

2010
dbSNP: rs57865060
rs57865060
CYP1B1 ; CYP1B1-AS1
0.010 GeneticVariation BEFREE In addition, an E229K CYP1B1 mutation was found in a woman with a germ line HNF1alpha mutation in a familial adenomatosis context. 17363580

2007
dbSNP: rs747416693
rs747416693
HNF1A
0.010 GeneticVariation BEFREE In addition, an E229K CYP1B1 mutation was found in a woman with a germ line HNF1alpha mutation in a familial adenomatosis context. 17363580

2007
dbSNP: rs28934571
rs28934571
TP53
0.010 GeneticVariation BEFREE It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protein p53) mutation in aflatoxin B1-exposed patients, KRAS mutations related to vinyl chloride exposure, hepatocyte nuclear factor 1alpha (HNF1alpha) mutations associated to hepatocellular adenomas and adenomatosis polyposis coli (APC) germline mutations predisposing to hepatoblastomas. 16799619

2006