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rs1130409

From SNPedia

Orientationplus
Stabilizedplus
Make rs1130409(G;G)
Make rs1130409(G;T)
Make rs1130409(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position20456995
GeneAPEX1, OSGEP
is asnp
is mentioned by
dbSNPrs1130409
ebirs1130409
HLIrs1130409
Exacrs1130409
Varsomers1130409
Maprs1130409
PheGenIrs1130409
hapmaprs1130409
1000 genomesrs1130409
hgdprs1130409
ensemblrs1130409
gopubmedrs1130409
geneviewrs1130409
scholarrs1130409
googlers1130409
pharmgkbrs1130409
gwascentralrs1130409
openSNPrs1130409
23andMers1130409
23andMe allrs1130409
SNP Nexus

SNPshotrs1130409
SNPdbers1130409
MSV3drs1130409
GWAS Ctlgrs1130409
Merged fromRs3136820
GMAF0.4426
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
APEX1-D148E
aa_change Asp148Glu
aa_change_short D148E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.427217
summary



[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