Gene: APC ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1019221239
rs1019221239
APC
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060503288
rs1060503288
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503323
rs1060503323
APC
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060503333
rs1060503333
APC
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060503366
rs1060503366
APC
CT 0.700 GeneticVariation CLINVAR

dbSNP: rs1064793716
rs1064793716
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064794163
rs1064794163
APC
G 0.700 GeneticVariation CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240

2017
dbSNP: rs1064794163
rs1064794163
APC
G 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005
dbSNP: rs1064794163
rs1064794163
APC
G 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. 15459959

2004
dbSNP: rs1064795228
rs1064795228
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs1114167567
rs1114167567
APC
G 0.700 CausalMutation CLINVAR

dbSNP: rs1114167569
rs1114167569
APC
A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167594
rs1114167594
APC
C 0.700 CausalMutation CLINVAR

dbSNP: rs1131691143
rs1131691143
APC
C 0.700 CausalMutation CLINVAR

dbSNP: rs1179254201
rs1179254201
APC
0.010 GeneticVariation BEFREE The three most frequent CD24 SNP combinations were: heterozygote for A1626G and WT for the rest of the alleles (14% of patients), heterozygote for C170T, A1626G, A1056G and WT for the rest (14% of patients), and heterozygote for C170T, A1056G and WT for the rest (10% of patients).All patients were APC WT. 26394139

2015
dbSNP: rs1182822563
rs1182822563
APC
0.010 GeneticVariation BEFREE The three most frequent CD24 SNP combinations were: heterozygote for A1626G and WT for the rest of the alleles (14% of patients), heterozygote for C170T, A1626G, A1056G and WT for the rest (14% of patients), and heterozygote for C170T, A1056G and WT for the rest (10% of patients).All patients were APC WT. 26394139

2015
dbSNP: rs11954856
rs11954856
APC
0.010 GeneticVariation BEFREE This study aims to determine the contribution of polymorphisms in the genes of the β-catenin destruction complex to develop CRC, specifically adenomatous polyposis coli (APC) (rs11954856 G>T and rs459552 A>T), axis inhibition protein 1 (AXIN1) (rs9921222 C>T and rs1805105 C>T), AXIN2 (rs7224837 A>G), and dishevelled 2 (DVL2) (2074222 G>A and rs222836 C>T). 31723073

2019
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