chr14:20456995:T>G Detail (hg38) (APEX1)

Information

Genome

Assembly Position
hg19 chr14:20,925,154-20,925,154 View the variant detail on this assembly version.
hg38 chr14:20,456,995-20,456,995

HGVS

Type Transcript Protein
RefSeq NM_001244249.1:c.444T>G NP_001231178.1:p.Asp148Glu
NM_001641.3:c.444T>G NP_001632.2:p.Asp148Glu
NM_080648.2:c.444T>G NP_542379.1:p.Asp148Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.398
ToMMo:0.410
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.412

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 107748 OMIM
HGNC 587 HGNC
Ensembl ENSG00000100823 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv50037445 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-06-09 criteria provided, single submitter not provided germline Detail
Benign 2019-10-17 criteria provided, single submitter APEX1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.085 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.008 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.015 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.011 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.002 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.009 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.019 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.001 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.004 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.018 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.023 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.013 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.002 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.098 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.006 colorectal carcinoma Using a family-based study, we investigated the role of polymorphisms in 4 BER g... BeFree 21037106 Detail
<0.001 endometrial carcinoma Our data indicate that except for the endometrial cancer-associated APE1 variant... BeFree 23776569 Detail
<0.001 uterine corpus cancer Our data indicate that except for the endometrial cancer-associated APE1 variant... BeFree 23776569 Detail
0.062 colorectal cancer Using a family-based study, we investigated the role of polymorphisms in 4 BER g... BeFree 21037106 Detail
0.013 colorectal carcinoma Using a family-based study, we investigated the role of polymorphisms in 4 BER g... BeFree 21037106 Detail
0.030 colorectal cancer Using a family-based study, we investigated the role of polymorphisms in 4 BER g... BeFree 21037106 Detail
<0.001 Malignant neoplasm of endometrium Our data indicate that except for the endometrial cancer-associated APE1 variant... BeFree 23776569 Detail
0.007 Malignant neoplasm of breast rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs... BeFree 18669164 Detail
0.002 breast carcinoma rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs... BeFree 18669164 Detail
<0.001 Hyperkeratosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
<0.001 melanoma We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, X... BeFree 22687647 Detail
<0.001 Melanosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
<0.001 Hyperkeratosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
<0.001 Melanosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
<0.001 Hyperkeratosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.072 Malignant neoplasm of lung Association between the OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and lun... BeFree 23065211 Detail
<0.001 keratosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.124 Adenocarcinoma of lung (disorder) In summary, this meta-analysis indicates that OGG1 Ser326Cys show an increased l... BeFree 23065211 Detail
<0.001 Melanosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.006 stomach carcinoma To evaluate the association between genetic polymorphisms of X-ray repair cross-... BeFree 19147860 Detail
0.026 Malignant neoplasm of breast Association between OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and breast ... BeFree 24893568 Detail
<0.001 Melanosis coli Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.002 Malignant neoplasm of stomach To evaluate the association between genetic polymorphisms of X-ray repair cross-... BeFree 19147860 Detail
0.030 Malignant neoplasm of urinary bladder Using multifactor dimensionality reduction approach, the four-factor model, incl... BeFree 17220334 Detail
<0.001 Paroxysmal atrial tachycardia We investigated the association of 10 base-excision and nucleotide-excision repa... BeFree 17531525 Detail
0.002 stomach carcinoma To evaluate the association between genetic polymorphisms of X-ray repair cross-... BeFree 19147860 Detail
0.004 coronary artery disease The aim of this study was to investigate the relationship between AP-endonucleas... BeFree 23368530 Detail
0.019 Malignant neoplasm of breast Association between OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and breast ... BeFree 24893568 Detail
0.003 Carcinoma of lung We investigated the association of 10 base-excision and nucleotide-excision repa... BeFree 17531525 Detail
0.005 breast carcinoma Association between OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and breast ... BeFree 24893568 Detail
0.009 Carcinoma of lung Association between the OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and lun... BeFree 23065211 Detail
<0.001 keratosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.013 Carcinoma of lung Association between the OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and lun... BeFree 23065211 Detail
0.028 Malignant neoplasm of urinary bladder Using multifactor dimensionality reduction approach, the four-factor model, incl... BeFree 17220334 Detail
0.002 Non-small cell lung carcinoma This study investigated polymorphisms of OGG1 Ser326Cys, APE1 Asp148Glu APE1-141... BeFree 24729390 Detail
0.036 Malignant neoplasm of lung We investigated the association of 10 base-excision and nucleotide-excision repa... BeFree 17531525 Detail
0.005 breast carcinoma Association between OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and breast ... BeFree 24893568 Detail
0.018 Malignant neoplasm of stomach To evaluate the association between genetic polymorphisms of X-ray repair cross-... BeFree 19147860 Detail
0.001 Adenocarcinoma of lung (disorder) In summary, this meta-analysis indicates that OGG1 Ser326Cys show an increased l... BeFree 23065211 Detail
<0.001 Melanosis coli Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.008 stomach carcinoma To evaluate the association between genetic polymorphisms of X-ray repair cross-... BeFree 19147860 Detail
0.004 Carcinoma of bladder Using multifactor dimensionality reduction approach, the four-factor model, incl... BeFree 17220334 Detail
<0.001 keratosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.049 Malignant neoplasm of lung Association between the OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and lun... BeFree 23065211 Detail
0.084 Carcinoma of lung We investigated the association of 10 base-excision and nucleotide-excision repa... BeFree 17531525 Detail
0.013 Malignant neoplasm of stomach To evaluate the association between genetic polymorphisms of X-ray repair cross-... BeFree 19147860 Detail
<0.001 Melanosis coli Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.044 Malignant neoplasm of lung We investigated the association of 10 base-excision and nucleotide-excision repa... BeFree 17531525 Detail
0.002 Carcinoma of bladder Using multifactor dimensionality reduction approach, the four-factor model, incl... BeFree 17220334 Detail
0.003 coronary artery disease The aim of this study was to investigate the relationship between AP-endonucleas... BeFree 23368530 Detail
0.214 Malignant neoplasm of lung In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... BeFree 17531525 Detail
0.002 prostate carcinoma The association between the APE1 Asp148Glu polymorphism and prostate cancer susc... BeFree 25234162 Detail
0.004 Non-small cell lung carcinoma We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs2548... BeFree 21420246 Detail
0.049 Malignant neoplasm of lung In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... BeFree 17531525 Detail
0.106 colorectal cancer Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and sm... BeFree 18823566 Detail
0.005 breast carcinoma We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.003 endometriosis The APEX1 Asp(148)Glu genotype correlates well with its mRNA and protein express... BeFree 25422360 Detail
<0.001 colon carcinoma Our findings suggest that the MUTYH Gln324His and the APEX1 Asp148Glu constitute... BeFree 18823566 Detail
0.019 Malignant neoplasm of breast The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1... BeFree 18669164 Detail
0.028 Malignant neoplasm of urinary bladder APE1 Asp148Glu gene polymorphism and bladder cancer risk: a meta-analysis. BeFree 23143180 Detail
0.002 Carcinoma of bladder APE1 Asp148Glu gene polymorphism and bladder cancer risk: a meta-analysis. BeFree 23143180 Detail
0.059 Malignant neoplasm of breast We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.009 Carcinoma of lung APE1 Asp148Glu gene polymorphism and lung cancer risk: a meta-analysis. BeFree 21132382 Detail
0.009 Carcinoma of lung The association of APE1 Asp148Glu gene polymorphisms and lung cancer risk: an up... BeFree 24310503 Detail
0.007 Malignant neoplasm of prostate The association between the APE1 Asp148Glu polymorphism and prostate cancer susc... BeFree 25234162 Detail
0.080 breast carcinoma Previous association studies of breast cancer and BRCA2 N372H and functional obs... BeFree 15113441 Detail
<0.001 Glaucoma, Primary Open Angle The role of the 148 Asp/Glu polymorphism of the APE1 gene in the development and... BeFree 24375045 Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs2548... BeFree 21420246 Detail
0.003 colorectal carcinoma Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and sm... BeFree 18823566 Detail
0.009 Carcinoma of lung Genetic polymorphism of APE1 rs1130409 can contribute to the risk of lung cancer... BeFree 24705777 Detail
0.004 amyotrophic lateral sclerosis Moreover, it was suggested that the common APEX1 Asp148Glu polymorphism might be... BeFree 18482781 Detail
0.012 colorectal cancer The APE1 Asp148Glu polymorphism and colorectal cancer susceptibility: a meta-ana... BeFree 24254302 Detail
<0.001 squamous cell carcinoma We found a statistically significant interaction between APEX1 Asp148Glu and the... BeFree 21198260 Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs2548... BeFree 21420246 Detail
<0.001 breast carcinoma We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
<0.001 Malignant tumor of colon Our findings suggest that the MUTYH Gln324His and the APEX1 Asp148Glu constitute... BeFree 18823566 Detail
0.005 breast carcinoma Moreover, the combination of the C-C haplotype of OGG1 with the APEX1 Asp148Glu ... BeFree 24076439 Detail
0.100 Malignant neoplasm of lung These results suggest that APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms migh... BeFree 15044328 Detail
0.014 Carcinoma of lung In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... BeFree 17531525 Detail
0.028 colorectal carcinoma Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and sm... BeFree 18823566 Detail
0.022 Malignant neoplasm of breast We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.049 Malignant neoplasm of lung APE1 Asp148Glu gene polymorphism and lung cancer risk: a meta-analysis. BeFree 21132382 Detail
0.012 Cancer of Head and Neck We thus conclude that the XPD Asp312Asn and APE1 Asp148Glu polymorphisms increas... BeFree 25916209 Detail
0.003 Carcinogenesis The pooled odds ratio (OR) with 95 % confidence interval (95 % CI) was calculate... BeFree 24523018 Detail
0.009 Carcinoma of lung A common APE1 polymorphism, a T--&gt;G transversion (Asp 148 Glu), was previousl... BeFree 16425270 Detail
0.020 Carcinoma of lung These results suggest that APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms migh... BeFree 15044328 Detail
0.009 Carcinoma of lung APEX1 Asp148Glu gene polymorphism is a risk factor for lung cancer in relation t... BeFree 21198260 Detail
0.100 Malignant neoplasm of lung In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... BeFree 17531525 Detail
0.003 colorectal carcinoma Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 ex... BeFree 25268610 Detail
0.122 colon carcinoma The ORs for the MUTYH Gln324His and the APEX1 Asp148Glu were statistically signi... BeFree 18823566 Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs2548... BeFree 21420246 Detail
0.049 Malignant neoplasm of lung The association of APE1 Asp148Glu gene polymorphisms and lung cancer risk: an up... BeFree 24310503 Detail
0.002 Malignant neoplasm of stomach Our findings suggest that APEX1 Asp148Glu polymorphism might be a genetic risk f... BeFree 24349526 Detail
0.005 breast carcinoma The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1... BeFree 18669164 Detail
<0.001 Amyotrophic Lateral Sclerosis, Sporadic Lack of association between the APEX1 Asp148Glu polymorphism and sporadic amyotr... BeFree 18482781 Detail
0.009 Carcinoma of lung In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... BeFree 17531525 Detail
0.009 Carcinoma of lung APE1 Asp148Glu polymorphism and lung cancer susceptibility. BeFree 24523018 Detail
0.009 Carcinoma of lung These results suggest that APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms migh... BeFree 15044328 Detail
0.049 Malignant neoplasm of lung APE1 Asp148Glu polymorphism and lung cancer susceptibility. BeFree 24523018 Detail
0.049 Malignant neoplasm of lung Genetic polymorphism of APE1 rs1130409 can contribute to the risk of lung cancer... BeFree 24705777 Detail
0.026 Malignant neoplasm of breast Moreover, the combination of the C-C haplotype of OGG1 with the APEX1 Asp148Glu ... BeFree 24076439 Detail
0.002 Malignant neoplasm of stomach This meta-analysis suggests that the APE1 Asp148Glu polymorphism G allele is ass... BeFree 25945024 Detail
0.012 colorectal cancer Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and sm... BeFree 18823566 Detail
0.003 Malignant tumor of colon The ORs for the MUTYH Gln324His and the APEX1 Asp148Glu were statistically signi... BeFree 18823566 Detail
0.030 colorectal cancer Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 ex... BeFree 25268610 Detail
<0.001 Malignant neoplasm of breast We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
<0.001 Malignant neoplasm of gastrointestinal tract This meta-analysis suggests that the APE1 Asp148Glu polymorphism G allele is ass... BeFree 25945024 Detail
<0.001 Glaucoma, Primary Open Angle Moreover, the association of VF factor with 148 Asp/Glu of APE1 genotype distrib... BeFree 26056729 Detail
0.003 Cancer of Head and Neck We thus conclude that the XPD Asp312Asn and APE1 Asp148Glu polymorphisms increas... BeFree 25916209 Detail
0.004 Non-small cell lung carcinoma The data from the current study provide evidence that OGG1 Ser326Cys, XRCC1 Arg3... BeFree 24729390 Detail
0.480 Malignant neoplasm of breast Previous association studies of breast cancer and BRCA2 N372H and functional obs... BeFree 15113441 Detail
0.049 Malignant neoplasm of lung A common APE1 polymorphism, a T--&gt;G transversion (Asp 148 Glu), was previousl... BeFree 16425270 Detail
0.062 colorectal cancer APE1 Asp148Glu is associated with increased CRC risk and smoking alters the asso... BeFree 25024628 Detail
0.020 Carcinoma of lung In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... BeFree 17531525 Detail
0.008 adenocarcinoma We found a statistically significant interaction between APEX1 Asp148Glu and the... BeFree 21198260 Detail
0.013 colorectal carcinoma APE1 Asp148Glu is associated with increased CRC risk and smoking alters the asso... BeFree 25024628 Detail
0.002 stomach carcinoma Our findings suggest that APEX1 Asp148Glu polymorphism might be a genetic risk f... BeFree 24349526 Detail
0.008 breast carcinoma We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.002 stomach carcinoma This meta-analysis suggests that the APE1 Asp148Glu polymorphism G allele is ass... BeFree 25945024 Detail
0.012 colorectal cancer Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 ex... BeFree 25268610 Detail
0.005 breast carcinoma Previous association studies of breast cancer and BRCA2 N372H and functional obs... BeFree 15113441 Detail
0.003 colorectal carcinoma The APE1 Asp148Glu polymorphism and colorectal cancer susceptibility: a meta-ana... BeFree 24254302 Detail
0.005 breast carcinoma The association between the APE1 Asp148Glu polymorphism and breast cancer suscep... BeFree 24414702 Detail
<0.001 Malignant Childhood Neoplasm Genotype at the Asp148Glu SNP site in the APEX gene of the base excision repair ... BeFree 17177211 Detail
0.049 Malignant neoplasm of lung APEX1 Asp148Glu gene polymorphism is a risk factor for lung cancer in relation t... BeFree 21198260 Detail
0.011 colorectal cancer Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 ex... BeFree 25268610 Detail
0.098 Malignant neoplasm of breast The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1... BeFree 18669164 Detail
<0.001 Glaucoma, Primary Open Angle Moreover, the association of VF factor with 148 Asp/Glu of APE1 genotype distrib... BeFree 26056729 Detail
0.019 Malignant neoplasm of breast The combined effect of APEX1 Asp148Glu was found to be associated with an increa... BeFree 24076439 Detail
0.018 breast carcinoma The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1... BeFree 18669164 Detail
0.021 breast carcinoma We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.005 breast carcinoma The combined effect of APEX1 Asp148Glu was found to be associated with an increa... BeFree 24076439 Detail
0.006 colorectal carcinoma Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 ex... BeFree 25268610 Detail
0.049 Malignant neoplasm of lung These results suggest that APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms migh... BeFree 15044328 Detail
0.009 Carcinoma of lung Our results provide evidence that the non-synonymous polymorphism of APEX1 Asp(1... BeFree 23749940 Detail
0.003 colorectal carcinoma Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 ex... BeFree 25268610 Detail
0.019 Malignant neoplasm of breast We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.049 Malignant neoplasm of lung Our results provide evidence that the non-synonymous polymorphism of APEX1 Asp(1... BeFree 23749940 Detail
0.019 Malignant neoplasm of breast Previous association studies of breast cancer and BRCA2 N372H and functional obs... BeFree 15113441 Detail
0.019 Malignant neoplasm of breast The association between the APE1 Asp148Glu polymorphism and breast cancer suscep... BeFree 24414702 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001641.4(APEX1):c.444T>G (p.Asp148Glu) AND not provided ClinVar Detail
NM_001641.4(APEX1):c.444T>G (p.Asp148Glu) AND APEX1-related disorder ClinVar Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His... DisGeNET Detail
Our data indicate that except for the endometrial cancer-associated APE1 variant R237C, the polymorp... DisGeNET Detail
Our data indicate that except for the endometrial cancer-associated APE1 variant R237C, the polymorp... DisGeNET Detail
Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His... DisGeNET Detail
Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His... DisGeNET Detail
Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His... DisGeNET Detail
Our data indicate that except for the endometrial cancer-associated APE1 variant R237C, the polymorp... DisGeNET Detail
rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs4989588/T3337A (FEN1... DisGeNET Detail
rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs4989588/T3337A (FEN1... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs2548... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
Association between the OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and lung cancer risk: a met... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
In summary, this meta-analysis indicates that OGG1 Ser326Cys show an increased lung cancer risk in A... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
To evaluate the association between genetic polymorphisms of X-ray repair cross-complementing group ... DisGeNET Detail
Association between OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and breast cancer risk: a meta-... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
To evaluate the association between genetic polymorphisms of X-ray repair cross-complementing group ... DisGeNET Detail
Using multifactor dimensionality reduction approach, the four-factor model, including smoking status... DisGeNET Detail
We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... DisGeNET Detail
To evaluate the association between genetic polymorphisms of X-ray repair cross-complementing group ... DisGeNET Detail
The aim of this study was to investigate the relationship between AP-endonuclease-1 (Asp148Glu), XRC... DisGeNET Detail
Association between OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and breast cancer risk: a meta-... DisGeNET Detail
We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... DisGeNET Detail
Association between OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and breast cancer risk: a meta-... DisGeNET Detail
Association between the OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and lung cancer risk: a met... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
Association between the OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and lung cancer risk: a met... DisGeNET Detail
Using multifactor dimensionality reduction approach, the four-factor model, including smoking status... DisGeNET Detail
This study investigated polymorphisms of OGG1 Ser326Cys, APE1 Asp148Glu APE1-141T/G and XRCC1 Arg399... DisGeNET Detail
We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... DisGeNET Detail
Association between OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and breast cancer risk: a meta-... DisGeNET Detail
To evaluate the association between genetic polymorphisms of X-ray repair cross-complementing group ... DisGeNET Detail
In summary, this meta-analysis indicates that OGG1 Ser326Cys show an increased lung cancer risk in A... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
To evaluate the association between genetic polymorphisms of X-ray repair cross-complementing group ... DisGeNET Detail
Using multifactor dimensionality reduction approach, the four-factor model, including smoking status... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
Association between the OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and lung cancer risk: a met... DisGeNET Detail
We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... DisGeNET Detail
To evaluate the association between genetic polymorphisms of X-ray repair cross-complementing group ... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... DisGeNET Detail
Using multifactor dimensionality reduction approach, the four-factor model, including smoking status... DisGeNET Detail
The aim of this study was to investigate the relationship between AP-endonuclease-1 (Asp148Glu), XRC... DisGeNET Detail
In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... DisGeNET Detail
The association between the APE1 Asp148Glu polymorphism and prostate cancer susceptibility: a meta-a... DisGeNET Detail
We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs25489 [R280H], and rs254... DisGeNET Detail
In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... DisGeNET Detail
Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese ... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
The APEX1 Asp(148)Glu genotype correlates well with its mRNA and protein expression among endometrio... DisGeNET Detail
Our findings suggest that the MUTYH Gln324His and the APEX1 Asp148Glu constitutes an increased risk ... DisGeNET Detail
The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1) might be involved ... DisGeNET Detail
APE1 Asp148Glu gene polymorphism and bladder cancer risk: a meta-analysis. DisGeNET Detail
APE1 Asp148Glu gene polymorphism and bladder cancer risk: a meta-analysis. DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
APE1 Asp148Glu gene polymorphism and lung cancer risk: a meta-analysis. DisGeNET Detail
The association of APE1 Asp148Glu gene polymorphisms and lung cancer risk: an updated meta-analysis. DisGeNET Detail
The association between the APE1 Asp148Glu polymorphism and prostate cancer susceptibility: a meta-a... DisGeNET Detail
Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D... DisGeNET Detail
The role of the 148 Asp/Glu polymorphism of the APE1 gene in the development and progression of prim... DisGeNET Detail
We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs25489 [R280H], and rs254... DisGeNET Detail
Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese ... DisGeNET Detail
Genetic polymorphism of APE1 rs1130409 can contribute to the risk of lung cancer. DisGeNET Detail
Moreover, it was suggested that the common APEX1 Asp148Glu polymorphism might be associated with ALS... DisGeNET Detail
The APE1 Asp148Glu polymorphism and colorectal cancer susceptibility: a meta-analysis. DisGeNET Detail
We found a statistically significant interaction between APEX1 Asp148Glu and the risk for lung cance... DisGeNET Detail
We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs25489 [R280H], and rs254... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
Our findings suggest that the MUTYH Gln324His and the APEX1 Asp148Glu constitutes an increased risk ... DisGeNET Detail
Moreover, the combination of the C-C haplotype of OGG1 with the APEX1 Asp148Glu genotype was also as... DisGeNET Detail
These results suggest that APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms might modify the risk of... DisGeNET Detail
In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... DisGeNET Detail
Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese ... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
APE1 Asp148Glu gene polymorphism and lung cancer risk: a meta-analysis. DisGeNET Detail
We thus conclude that the XPD Asp312Asn and APE1 Asp148Glu polymorphisms increase the risk for HNC i... DisGeNET Detail
The pooled odds ratio (OR) with 95 % confidence interval (95 % CI) was calculated to assess the role... DisGeNET Detail
A common APE1 polymorphism, a T--&gt;G transversion (Asp 148 Glu), was previously shown to be associ... DisGeNET Detail
These results suggest that APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms might modify the risk of... DisGeNET Detail
APEX1 Asp148Glu gene polymorphism is a risk factor for lung cancer in relation to smoking in Japanes... DisGeNET Detail
In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... DisGeNET Detail
Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 expression in patients... DisGeNET Detail
The ORs for the MUTYH Gln324His and the APEX1 Asp148Glu were statistically significant for colon can... DisGeNET Detail
We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs25489 [R280H], and rs254... DisGeNET Detail
The association of APE1 Asp148Glu gene polymorphisms and lung cancer risk: an updated meta-analysis. DisGeNET Detail
Our findings suggest that APEX1 Asp148Glu polymorphism might be a genetic risk factor for the develo... DisGeNET Detail
The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1) might be involved ... DisGeNET Detail
Lack of association between the APEX1 Asp148Glu polymorphism and sporadic amyotrophic lateral sclero... DisGeNET Detail
In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... DisGeNET Detail
APE1 Asp148Glu polymorphism and lung cancer susceptibility. DisGeNET Detail
These results suggest that APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms might modify the risk of... DisGeNET Detail
APE1 Asp148Glu polymorphism and lung cancer susceptibility. DisGeNET Detail
Genetic polymorphism of APE1 rs1130409 can contribute to the risk of lung cancer. DisGeNET Detail
Moreover, the combination of the C-C haplotype of OGG1 with the APEX1 Asp148Glu genotype was also as... DisGeNET Detail
This meta-analysis suggests that the APE1 Asp148Glu polymorphism G allele is associated with an incr... DisGeNET Detail
Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese ... DisGeNET Detail
The ORs for the MUTYH Gln324His and the APEX1 Asp148Glu were statistically significant for colon can... DisGeNET Detail
Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 expression in patients... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
This meta-analysis suggests that the APE1 Asp148Glu polymorphism G allele is associated with an incr... DisGeNET Detail
Moreover, the association of VF factor with 148 Asp/Glu of APE1 genotype distribution and POAG progr... DisGeNET Detail
We thus conclude that the XPD Asp312Asn and APE1 Asp148Glu polymorphisms increase the risk for HNC i... DisGeNET Detail
The data from the current study provide evidence that OGG1 Ser326Cys, XRCC1 Arg399Gln, APE1 Asp148Gl... DisGeNET Detail
Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D... DisGeNET Detail
A common APE1 polymorphism, a T--&gt;G transversion (Asp 148 Glu), was previously shown to be associ... DisGeNET Detail
APE1 Asp148Glu is associated with increased CRC risk and smoking alters the association between XRCC... DisGeNET Detail
In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... DisGeNET Detail
We found a statistically significant interaction between APEX1 Asp148Glu and the risk for lung cance... DisGeNET Detail
APE1 Asp148Glu is associated with increased CRC risk and smoking alters the association between XRCC... DisGeNET Detail
Our findings suggest that APEX1 Asp148Glu polymorphism might be a genetic risk factor for the develo... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
This meta-analysis suggests that the APE1 Asp148Glu polymorphism G allele is associated with an incr... DisGeNET Detail
Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 expression in patients... DisGeNET Detail
Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D... DisGeNET Detail
The APE1 Asp148Glu polymorphism and colorectal cancer susceptibility: a meta-analysis. DisGeNET Detail
The association between the APE1 Asp148Glu polymorphism and breast cancer susceptibility: a meta-ana... DisGeNET Detail
Genotype at the Asp148Glu SNP site in the APEX gene of the base excision repair (BER) pathway was as... DisGeNET Detail
APEX1 Asp148Glu gene polymorphism is a risk factor for lung cancer in relation to smoking in Japanes... DisGeNET Detail
Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 expression in patients... DisGeNET Detail
The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1) might be involved ... DisGeNET Detail
Moreover, the association of VF factor with 148 Asp/Glu of APE1 genotype distribution and POAG progr... DisGeNET Detail
The combined effect of APEX1 Asp148Glu was found to be associated with an increased risk of BC. DisGeNET Detail
The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1) might be involved ... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
The combined effect of APEX1 Asp148Glu was found to be associated with an increased risk of BC. DisGeNET Detail
Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 expression in patients... DisGeNET Detail
These results suggest that APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms might modify the risk of... DisGeNET Detail
Our results provide evidence that the non-synonymous polymorphism of APEX1 Asp(148)Glu may not be di... DisGeNET Detail
Effect of APE1 T2197G (Asp148Glu) polymorphism on APE1, XRCC1, PARP1 and OGG1 expression in patients... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
Our results provide evidence that the non-synonymous polymorphism of APEX1 Asp(148)Glu may not be di... DisGeNET Detail
Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D... DisGeNET Detail
The association between the APE1 Asp148Glu polymorphism and breast cancer susceptibility: a meta-ana... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1130409 dbSNP
Genome
hg38
Position
chr14:20,456,995-20,456,995
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1167
Mean of sample read depth (HGVD)
40.05
Standard deviation of sample read depth (HGVD)
18.66
Number of reference allele (HGVD)
1405
Number of alternative allele (HGVD)
929
Allele Frequency (HGVD)
0.39802913453299055
Gene Symbol (HGVD)
APEX1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1130409
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.41
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6872
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8362
East Asian Allele Counts (ExAC)
3448
East Asian Heterozygous Counts (ExAC)
2082
East Asian Homozygous Counts (ExAC)
683
East Asian Allele Frequency (ExAC)
0.4123415450849079
Chromosome Counts in All Race (ExAC)
117200
Allele Counts in All Race (ExAC)
50156
Heterozygous Counts in All Race (ExAC)
28219
Homozygous Counts in All Race (ExAC)
10968
Allele Frequency in All Race (ExAC)
0.4279522184300341
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