Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1463038513
rs1463038513
APC
0.060 GeneticVariation BEFREE Real-time PCR assessed genetic variants of APC (I1307K and E1317Q), and four different single nucleotide polymorphisms (SNPs) in the CD24 gene: C170T (rs52812045), TG1527del (rs3838646), A1626G (rs1058881) and A1056G (rs1058818). 26394139

2015

dbSNP: rs1801155
rs1801155
APC
0.060 GeneticVariation BEFREE Real-time PCR assessed genetic variants of APC (I1307K and E1317Q), and four different single nucleotide polymorphisms (SNPs) in the CD24 gene: C170T (rs52812045), TG1527del (rs3838646), A1626G (rs1058881) and A1056G (rs1058818). 26394139

2015

dbSNP: rs1463038513
rs1463038513
APC
0.060 GeneticVariation BEFREE The APC p.I1307K gene variant is an important risk factor for colorectal neoplasia in average risk Ashkenazi Jews. 23896379

2013

dbSNP: rs1801155
rs1801155
APC
0.060 GeneticVariation BEFREE The APC p.I1307K gene variant is an important risk factor for colorectal neoplasia in average risk Ashkenazi Jews. 23896379

2013

dbSNP: rs1463038513
rs1463038513
APC
0.060 GeneticVariation BEFREE An APC mutation (I1307K) was found in an index case of a non-Jewish woman and her son with attenuated familial adenomatous polyposis (A-FAP) and no family history of cancer. 22180177

2012

dbSNP: rs1801155
rs1801155
APC
0.060 GeneticVariation BEFREE An APC mutation (I1307K) was found in an index case of a non-Jewish woman and her son with attenuated familial adenomatous polyposis (A-FAP) and no family history of cancer. 22180177

2012

dbSNP: rs1463038513
rs1463038513
APC
0.060 GeneticVariation BEFREE The characterization of somatic APC mutations in colonic adenomas and carcinomas in Ashkenazi Jews with the APC I1307K variant using linkage disequilibrium. 12533826

2003

dbSNP: rs1801155
rs1801155
APC
0.060 GeneticVariation BEFREE The characterization of somatic APC mutations in colonic adenomas and carcinomas in Ashkenazi Jews with the APC I1307K variant using linkage disequilibrium. 12533826

2003

dbSNP: rs1463038513
rs1463038513
APC
0.060 GeneticVariation BEFREE The authors believe the findings of the current study broaden the known spectrum of ethnic groups in which the APC I1307K mutation is prevalent. 10679643

2000

dbSNP: rs1801155
rs1801155
APC
0.060 GeneticVariation BEFREE The authors believe the findings of the current study broaden the known spectrum of ethnic groups in which the APC I1307K mutation is prevalent. 10679643

2000

dbSNP: rs1463038513
rs1463038513
APC
0.060 GeneticVariation BEFREE The vast majority of APC I1307K somatic mutations consisted of a single adenine insertion (insA) involving the variant (A)8 tract. 9751605

1998

dbSNP: rs1801155
rs1801155
APC
0.060 GeneticVariation BEFREE The vast majority of APC I1307K somatic mutations consisted of a single adenine insertion (insA) involving the variant (A)8 tract. 9751605

1998

dbSNP: rs459552
rs459552
APC
0.030 GeneticVariation BEFREE Fat intake modified the APC D1822V-adenoma association, but further studies are warranted. 20510605

2010

dbSNP: rs459552
rs459552
APC
0.030 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: rs459552
rs459552
APC
0.030 GeneticVariation BEFREE It is therefore unlikely that APC D1822V serves as an important marker for colorectal carcinoma. 14616385

2003

dbSNP: rs1801166
rs1801166
APC
0.020 GeneticVariation BEFREE Real-time PCR assessed genetic variants of APC (I1307K and E1317Q), and four different single nucleotide polymorphisms (SNPs) in the CD24 gene: C170T (rs52812045), TG1527del (rs3838646), A1626G (rs1058881) and A1056G (rs1058818). 26394139

2015

dbSNP: rs1801166
rs1801166
APC
0.020 GeneticVariation BEFREE The APC E1317Q variant was detected in 1.25% individuals undergoing testing. 17920230

2007

dbSNP: rs121913224
rs121913224
APC
0.010 GeneticVariation BEFREE Genetic testing using massively parallel sequencing identified a 5-bp deletion (c.3927_3931delAAAGA) which causes frameshift (p.Glu1309Aspfs) and creates a premature stop codon, resulting in the replacement of the last 1535 amino acids of APC by five incorrect amino acids. 30340471

2018

dbSNP: rs1058818
rs1058818
0.010 GeneticVariation BEFREE Real-time PCR assessed genetic variants of APC (I1307K and E1317Q), and four different single nucleotide polymorphisms (SNPs) in the CD24 gene: C170T (rs52812045), TG1527del (rs3838646), A1626G (rs1058881) and A1056G (rs1058818). 26394139

2015

dbSNP: rs1058881
rs1058881
0.010 GeneticVariation BEFREE Real-time PCR assessed genetic variants of APC (I1307K and E1317Q), and four different single nucleotide polymorphisms (SNPs) in the CD24 gene: C170T (rs52812045), TG1527del (rs3838646), A1626G (rs1058881) and A1056G (rs1058818). 26394139

2015

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: rs1331131200
rs1331131200
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: rs374853436
rs374853436
APC
0.010 GeneticVariation BEFREE Novel Missense Mutation at Codon 2774 (C.8321 G>A) p.S2774N of APC Gene in a Denovo Case of Familial Adenomatous Polyposis. 26161710

2015

dbSNP: rs3838646
rs3838646
0.010 GeneticVariation BEFREE Real-time PCR assessed genetic variants of APC (I1307K and E1317Q), and four different single nucleotide polymorphisms (SNPs) in the CD24 gene: C170T (rs52812045), TG1527del (rs3838646), A1626G (rs1058881) and A1056G (rs1058818). 26394139

2015