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From SNPedia

Make rs1130409(G;G)
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Make rs1130409(T;T)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs1130409
23andMe allrs1130409
SNP Nexus

GWAS Ctlgrs1130409
Merged fromRs3136820
Max Magnitude
? (G;G) (G;T) (T;T) 28

[PMID 19631633] Haplotype-based case-control study between human apurinic/apyrimidinic endonuclease 1/redox effector factor-1 gene and cerebral infarction

[PMID 20010699] Haplotype-based case-control study on human apurinic/apyrimidinic endonuclease 1/redox effector factor-1 gene and essential hypertension

[PMID 15113441OA-icon.png] Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.

[PMID 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

[PMID 16857995OA-icon.png] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.

[PMID 17220334] High-order interactions among genetic variants in DNA base excision repair pathway genes and smoking in bladder cancer susceptibility.

[PMID 17984110] Selected base excision repair gene polymorphisms and susceptibility to biliary tract cancer and biliary stones: a population-based case-control study in China.

[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

[PMID 18669164] Association of polymorphisms in base excision repair genes with the risk of breast cancer: a case-control study in North Indian women.

[PMID 18701435OA-icon.png] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.

[PMID 18823566OA-icon.png] Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population.

[PMID 18990748OA-icon.png] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.

[PMID 19029194OA-icon.png] Base excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African-Americans.

[PMID 19098027OA-icon.png] SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.

[PMID 19138047OA-icon.png] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.

[PMID 19318434OA-icon.png] Associations between polymorphisms in DNA repair genes and glioblastoma.

[PMID 19367277OA-icon.png] Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.

[PMID 19706757OA-icon.png] Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.

[PMID 20540786OA-icon.png] The association of 18F-deoxyglucose (FDG) uptake of PET with polymorphisms in the glucose transporter gene (SLC2A1) and hypoxia-related genes (HIF1A, VEGFA, APEX1) in non-small cell lung cancer. SLC2A1 polymorphisms and FDG-PET in NSCLC patients.

[PMID 20577654OA-icon.png] XRCC1, but not APE1 and hOGG1 gene polymorphisms is a risk factor for pterygium.

[PMID 21420246OA-icon.png] Functional polymorphisms of base excision repair genes XRCC1 and APEX1 predict risk of radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy.

[PMID 21538578] Genetic polymorphisms in APE1 are associated with renal cell carcinoma risk in a Chinese population.

[PMID 21561390] Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population.

[PMID 22687647] Polymorphisms in base excision DNA repair genes and association with melanoma risk in a pilot study on Central-South Italian population.

GET Evidence
aa_change Asp148Glu
aa_change_short D148E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.427217

[PMID 22850545OA-icon.png] Selected polymorphisms of base excision repair genes and pancreatic cancer risk in Japanese

[PMID 23505922] Association of the polymorphism of APE1 gene with the risk of prostate cancer in Chinese Han population

[PMID 23631762OA-icon.png] Genotyping analysis and 18FDG uptake in breast cancer patients: a preliminary research

[PMID 24257553] Apurinic/Apyrimidinic Endonuclease 1 Polymorphisms Are Associated With Ovarian Cancer Susceptibility in a Chinese Population

[PMID 24325908] Analysis of dna repair gene polymorphisms in glioblastoma

[PMID 22466227] Genotoxic effects of occupational exposure to lead and influence of polymorphisms in genes involved in lead toxicokinetics and in DNA repair.

[PMID 22987024] Aromatic DNA adducts and number of lung cancer risk alleles in Map-Ta-Phut Industrial Estate workers and nearby residents.

[PMID 23175176OA-icon.png] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.

[PMID 24036326] Genotoxic effect of exposure to metal(loid)s. A molecular epidemiology survey of populations living and working in Panasqueira mine area, Portugal

[PMID 23755158OA-icon.png] Assessing SNP-SNP interactions among DNA repair, modification and metabolism related pathway genes in breast cancer susceptibility