{{Rsnum
|rsid=1130409
|Gene=APEX1
|Chromosome=14
|position=20456995
|Orientation=plus
|GMAF=0.4426
|Gene_s=APEX1,OSGEP
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 31.9 | 40.7 | 27.4
| HCB | 18.5 | 52.6 | 28.9
| JPT | 10.6 | 50.4 | 38.9
| YRI | 13.7 | 37.7 | 48.6
| ASW | 7.1 | 60.7 | 32.1
| CHB | 18.5 | 52.6 | 28.9
| CHD | 13.8 | 51.4 | 34.9
| GIH | 10.9 | 37.6 | 51.5
| LWK | 13.6 | 41.8 | 44.5
| MEX | 19.0 | 46.6 | 34.5
| MKK | 10.3 | 50.0 | 39.7
| TSI | 23.8 | 41.6 | 34.7
| HapMapRevision=28
}}{{PMID Auto
|PMID=19631633
|Title=Haplotype-based case-control study between human apurinic/apyrimidinic endonuclease 1/redox effector factor-1 gene and cerebral infarction
}}

{{PMID Auto
|PMID=20010699
|Title=Haplotype-based case-control study on human apurinic/apyrimidinic endonuclease 1/redox effector factor-1 gene and essential hypertension
}}

{{PMID Auto
|PMID=15113441
|Title=Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.
|OA=1
}}

{{PMID Auto
|PMID=16465622
|Title=Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
|OA=1
}}

{{PMID Auto
|PMID=16857995
|Title=Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
|OA=1
}}

{{PMID Auto
|PMID=17220334
|Title=High-order interactions among genetic variants in DNA base excision repair pathway genes and smoking in bladder cancer susceptibility.
}}

{{PMID Auto
|PMID=17984110
|Title=Selected base excision repair gene polymorphisms and susceptibility to biliary tract cancer and biliary stones: a population-based case-control study in China.
}}

{{PMID Auto
|PMID=18191955
|Title=Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
|OA=1
}}

{{PMID Auto
|PMID=18669164
|Title=Association of polymorphisms in base excision repair genes with the risk of breast cancer: a case-control study in North Indian women.
}}

{{PMID Auto
|PMID=18701435
|Title=Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18823566
|Title=Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population.
|OA=1
}}

{{PMID Auto
|PMID=18990748
|Title=International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.
|OA=1
}}

{{PMID Auto
|PMID=19029194
|Title=Base excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African-Americans.
|OA=1
}}

{{PMID Auto
|PMID=19098027
|Title=SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.
|OA=1
}}

{{PMID Auto
|PMID=19138047
|Title=Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.
|OA=1
}}

{{PMID Auto
|PMID=19318434
|Title=Associations between polymorphisms in DNA repair genes and glioblastoma.
|OA=1
}}

{{PMID Auto
|PMID=19367277
|Title=Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=19706757
|Title=Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.
|OA=1
}}

{{PMID Auto
|PMID=20540786
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=20577654
|Title=XRCC1, but not APE1 and hOGG1 gene polymorphisms is a risk factor for pterygium.
|OA=1
}}

{{PMID Auto
|PMID=21420246
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=21538578
|Title=Genetic polymorphisms in APE1 are associated with renal cell carcinoma risk in a Chinese population.
}}

{{PMID Auto
|PMID=21561390
|Title=Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population.
}}

{{PMID Auto
|PMID=22687647
|Title=Polymorphisms in base excision DNA repair genes and association with melanoma risk in a pilot study on Central-South Italian population.
}}

{{GET Evidence
|gene=APEX1
|aa_change=Asp148Glu
|aa_change_short=D148E
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1130409
|overall_frequency_n=4596
|overall_frequency_d=10758
|overall_frequency=0.427217
|n_genomes=27
|n_genomes_annotated=0
|n_haplomes=30
|n_articles=0
|n_articles_annotated=0
|nblosum100=-2
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=22850545
|Title=Selected polymorphisms of base excision repair genes and pancreatic cancer risk in Japanese
|OA=1
}}

{{PMID Auto
|PMID=23505922
|Title=Association of the polymorphism of APE1 gene with the risk of prostate cancer in Chinese Han population
}}

{{PMID Auto
|PMID=23631762
|Title=Genotyping analysis and 18FDG uptake in breast cancer patients: a preliminary research
|OA=1
}}

{{PMID Auto
|PMID=24257553
|Title=Apurinic/Apyrimidinic Endonuclease 1 Polymorphisms Are Associated With Ovarian Cancer Susceptibility in a Chinese Population
}}

{{PMID Auto
|PMID=24325908
|Title=Analysis of dna repair gene polymorphisms in glioblastoma
}}

{{PMID Auto
|PMID=22466227
|Title=Genotoxic effects of occupational exposure to lead and influence of polymorphisms in genes involved in lead toxicokinetics and in DNA repair.
}}

{{PMID Auto
|PMID=22987024
|Title=Aromatic DNA adducts and number of lung cancer risk alleles in Map-Ta-Phut Industrial Estate workers and nearby residents.
}}

{{PMID Auto
|PMID=23175176
|Title=Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
}}

{{PMID Auto
|PMID=24036326
|Title=Genotoxic effect of exposure to metal(loid)s. A molecular epidemiology survey of populations living and working in Panasqueira mine area, Portugal
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}