|
rs1019221239
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104893877
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Other examples are, Parkinson's disease (PD), where A53T alpha-synuclein occurs in Lewy bodies and familial amyloid polyneuropathy (FAP), where an A25T substitution appears in transthyretin (TTR).
|
20060816 |
2010 |
|
rs1057517457
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The c.34G>T was present in 39.7% of MAP adenomas versus 1.6% of FAP adenomas (P < 0.01).
|
26056087 |
2015 |
|
rs1057517457
|
|
|
0.020 |
GeneticVariation |
BEFREE |
KRAS mutations were identified in 24% MUTYH-associated-polyposis vs 15% classical/attenuated familial polyposis adenomas; mutated MUTYH-associated-polyposis adenomas exhibited only c.34G>T transversions in codon 12, an alteration typically associated with oxidative DNA damage, or mutations in codon 13; neither of these mutations was found in classical/attenuated familial polyposis adenomas (P<0.001).
|
23599153 |
2013 |
|
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 |
|
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 |
|
rs1060503288
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1060503323
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1060503333
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1060503366
|
|
CT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1064793716
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1064794163
|
|
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 |
|
rs1064794163
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
|
20223039 |
2005 |
|
rs1064794163
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
|
15459959 |
2004 |
|
rs1064795228
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1114167567
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1114167569
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1114167594
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs11283943
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study we analyzed the association of genotype and haplotype status of two single nucleotide polymorphisms (SNPs), rs2229992 and rs11283943, in the APC and MCC genes, respectively, with an increased risk of breast carcinogenesis in a breast cancer and control population from eastern India.
|
21279955 |
2011 |
|
rs1131691143
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs113488022
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Relationships between adenomatous polyposis coli (APC) mutations, BRAF V600E mutations, and the CpG island methylator phenotype (CIMP) in colon cancer have not been explored.
|
17293392 |
2007 |
|
rs11541796
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Since glu42gly has already been seen in Japanese FAP patients, and his90asn has been found in Portuguese and German individuals without FAP, we conclude that his90asn is a nonpathogenic variant.
|
7923855 |
1994 |
|
rs1179254201
|
|
|
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 |
|
rs1182822563
|
|
|
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 |
|
rs11954856
|
|
|
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 |