Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554083122
rs1554083122
APC
TTG 0.700 CausalMutation CLINVAR

dbSNP: rs1554074762
rs1554074762
APC
TT 0.700 CausalMutation CLINVAR

dbSNP: rs1554080695
rs1554080695
APC
TC 0.700 CausalMutation CLINVAR

dbSNP: rs1554085382
rs1554085382
APC
TA 0.700 CausalMutation CLINVAR

dbSNP: rs397515732
rs397515732
APC
TA 0.700 GeneticVariation CLINVAR Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques. 9101302

1997
dbSNP: rs876658724
rs876658724
APC
TA 0.700 CausalMutation CLINVAR

dbSNP: rs786201856
rs786201856
APC
T 0.730 CausalMutation CLINVAR

dbSNP: rs137854580
rs137854580
APC
T 0.720 CausalMutation CLINVAR

dbSNP: rs62619935
rs62619935
APC
T 0.720 CausalMutation CLINVAR

dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610

1992
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis. 10768871

2000
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. 7906810

1994
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis. 14729851

2004
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. 23159591

2013
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis. 10213492

1999
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. 14523376

2004
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR APC gene mutations causing familial adenomatous polyposis in Polish patients. 19029688

2008
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Singapore familial adenomatous polyposis (FAP) patients with classical adenomatous polyposis but undetectable APC mutations have accelerated cancer progression. 17026565

2006
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Preliminary results of the molecular diagnosis of familial adenomatous polyposis in Cuban families. 12172928

2002
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. 11247896

2001
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Alternative genetic pathways in colorectal carcinogenesis. 9342373

1997
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations. 12007223

2002
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP). 15108286

2004
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD). 12173026

2002