chr19:45867259:C>T Detail (hg19) (ERCC2)

Information

Genome

Assembly Position
hg19 chr19:45,867,259-45,867,259
hg38 chr19:45,364,001-45,364,001 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000400.3:c.934G>A NP_000391.1:p.Asp312Asn
NM_001130867.1:c.862G>A NP_001124339.1:p.Asp288Asn
Ensemble ENST00000391944.8:c.934G>A ENST00000391944.8:p.Asp312Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.036
ToMMo:0.037
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.133

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 126340 OMIM
HGNC 3434 HGNC
Ensembl ENSG00000104884 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62284245 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2021-12-03 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2023-07-07 criteria provided, multiple submitters, no conflicts Xeroderma pigmentosum, group D germline unknown Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2021-07-30 criteria provided, single submitter cerebrooculofacioskeletal syndrome 2 germline Detail
Benign 2021-07-30 criteria provided, single submitter Trichothiodystrophy 1, photosensitive germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 acoustic neuroma Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) an... BeFree 20150366 Detail
0.010 Malignant neoplasm of stomach By the Cox analysis, the CC genotype of ERCC1 rs11615, AA genotype of ERCC2 rs17... BeFree 25542228 Detail
<0.001 stomach carcinoma In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN ... BeFree 25542228 Detail
<0.001 Osteosarcoma of bone Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... BeFree 21826087 Detail
0.002 Osteosarcoma of bone Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... BeFree 21826087 Detail
0.012 Malignant neoplasm of stomach In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN ... BeFree 25542228 Detail
0.002 Xeroderma Pigmentosum, Complementation Group D The correlation between ERCC1 polymorphisms (rs11615 and rs3212986) and XPD poly... BeFree 26426637 Detail
0.003 Malignant neoplasm of stomach In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN ... BeFree 25542228 Detail
0.003 osteosarcoma Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... BeFree 21826087 Detail
0.004 osteosarcoma Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... BeFree 21826087 Detail
0.009 stomach carcinoma By the Cox analysis, the CC genotype of ERCC1 rs11615, AA genotype of ERCC2 rs17... BeFree 25542228 Detail
0.002 stomach carcinoma In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN ... BeFree 25542228 Detail
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
0.005 Malignant neoplasm of skin XPD Lys751Gln and Asp312Asn polymorphisms and susceptibility to skin cancer: a m... BeFree 25169498 Detail
0.013 Lymphoma, Non-Hodgkin Comprehensive assessment of associations between ERCC2 Lys751Gln/Asp312Asn polym... BeFree 25422223 Detail
0.004 osteosarcoma We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERC... BeFree 23098477 Detail
<0.001 Carcinoma of bladder These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
0.044 Malignant neoplasm of lung We investigated the relationship between polymorphisms in two NER genes, XPC (po... BeFree 17705814 Detail
0.013 Malignant neoplasm of lung These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
0.011 Leukemia, Myelocytic, Acute XPD Lys751Gln and not Asp312Asn polymorphism was associated with chemotherapy-in... BeFree 24284041 Detail
0.058 colorectal cancer XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interact... BeFree 17363013 Detail
<0.001 polyps In a Minnesota-based case-control study of cases with only adenomatous polyps (n... BeFree 16284370 Detail
<0.001 Rectal Carcinoma These interactions were stronger for rectal cancer cases (heterogeneity test P =... BeFree 19029193 Detail
0.002 Carcinoma of lung These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
0.003 lymphoma To investigate the relationship between DNA repair and NHL we analysed polymorph... BeFree 19736055 Detail
0.015 Malignant neoplasm of prostate The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cros... BeFree 23771356 Detail
0.084 Malignant neoplasm of urinary bladder These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
<0.001 polyps In a Minnesota-based case-control study of cases with only adenomatous polyps (n... BeFree 16284370 Detail
0.001 pancreatic carcinoma The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and panc... BeFree 16458430 Detail
0.565 Xeroderma Pigmentosum, Complementation Group D The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cros... BeFree 23771356 Detail
0.005 Carcinoma of bladder These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
0.214 Malignant neoplasm of lung We therefore examined XPD polymorphisms at Lys751Gln and Asp312Asn in 341 white ... BeFree 11245433 Detail
<0.001 Non-small cell lung carcinoma To summarize published data on the association between NER genes and responses t... BeFree 21075476 Detail
0.084 Carcinoma of lung We investigated the relationship between polymorphisms in two NER genes, XPC (po... BeFree 17705814 Detail
<0.001 Paroxysmal atrial tachycardia We investigated the relationship between polymorphisms in two NER genes, XPC (po... BeFree 17705814 Detail
0.007 colorectal cancer XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interact... BeFree 17363013 Detail
<0.001 Adenomatous Polyps In a Minnesota-based case-control study of cases with only adenomatous polyps (n... BeFree 16284370 Detail
<0.001 skin carcinoma We tested whether polymorphisms in the NER genes XPA (A23G) and XPD (Asp312Asn a... BeFree 17687452 Detail
0.003 colorectal carcinoma XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interact... BeFree 17363013 Detail
0.006 Squamous cell carcinoma of the head and neck Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 A... BeFree 21419115 Detail
0.565 Xeroderma Pigmentosum, Complementation Group D Potential xeroderma pigmentosum group D (XPD), also called excision repair cross... BeFree 23028453 Detail
0.001 Malignant neoplasm of pancreas The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and panc... BeFree 16458430 Detail
0.012 Malignant neoplasm of stomach ERCC2 Lys751Gln and Asp312Asn polymorphisms and gastric cancer risk: a meta-anal... BeFree 20981556 Detail
0.003 osteosarcoma We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERC... BeFree 23098477 Detail
<0.001 skin carcinoma We tested whether polymorphisms in the NER genes XPA (A23G) and XPD (Asp312Asn a... BeFree 17687452 Detail
0.008 breast carcinoma Meta-analysis of two ERCC2 (XPD) polymorphisms, Asp312Asn and Lys751Gln, in brea... BeFree 20379847 Detail
0.002 Osteosarcoma of bone We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERC... BeFree 23098477 Detail
0.003 prostate carcinoma The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cros... BeFree 23771356 Detail
0.014 Carcinoma of lung ERCC2/XPD Lys751Gln and Asp312Asn gene polymorphism and lung cancer risk: a meta... BeFree 20651612 Detail
0.014 Carcinoma of lung These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
<0.001 colorectal carcinoma We determined the risk of colorectal cancer in association with the four polymor... BeFree 17363013 Detail
0.214 Malignant neoplasm of lung A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC... BeFree 17498557 Detail
0.002 stomach carcinoma ERCC2 Lys751Gln and Asp312Asn polymorphisms and gastric cancer risk: a meta-anal... BeFree 20981556 Detail
0.008 colorectal cancer We determined the risk of colorectal cancer in association with the four polymor... BeFree 17363013 Detail
0.014 Carcinoma of lung We therefore examined XPD polymorphisms at Lys751Gln and Asp312Asn in 341 white ... BeFree 11245433 Detail
0.005 skin carcinoma Our findings indicate a reduced NMSC risk in relation to XPD Asp312Asn and Lys75... BeFree 17687452 Detail
0.214 Malignant neoplasm of lung These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
0.002 Squamous cell carcinoma of the head and neck Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 A... BeFree 21419115 Detail
0.084 Malignant neoplasm of breast Meta-analysis of two ERCC2 (XPD) polymorphisms, Asp312Asn and Lys751Gln, in brea... BeFree 20379847 Detail
0.010 colorectal carcinoma XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interact... BeFree 17363013 Detail
0.015 Malignant neoplasm of urinary bladder These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
0.214 Malignant neoplasm of lung ERCC2/XPD Lys751Gln and Asp312Asn gene polymorphism and lung cancer risk: a meta... BeFree 20651612 Detail
0.014 Carcinoma of lung A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC... BeFree 17498557 Detail
<0.001 Osteosarcoma of bone We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERC... BeFree 23098477 Detail
<0.001 Squamous cell carcinoma of oropharynx These findings suggest that polymorphisms of XPC-rs2228000, XPD-rs1799793 and XP... BeFree 23335232 Detail
<0.001 Squamous cell carcinoma of oropharynx In a dominant model, we found that polymorphisms of XPC-rs2228000, XPD-rs1799793... BeFree 23335232 Detail
<0.001 Squamous cell carcinoma of oropharynx In a dominant model, we found that polymorphisms of XPC-rs2228000, XPD-rs1799793... BeFree 23335232 Detail
<0.001 Squamous cell carcinoma of oropharynx In a dominant model, we found that polymorphisms of XPC-rs2228000, XPD-rs1799793... BeFree 23335232 Detail
0.001 Adenocarcinoma Of Esophagus Our meta-analysis suggested that the ERCC2 Asp312Asn polymorphism might be assoc... BeFree 24234258 Detail
0.008 breast carcinoma Significant association of XPD Asp312Asn polymorphism with breast cancer in Taiw... BeFree 21793320 Detail
0.004 osteosarcoma This study suggests that XPD rs1799793 could be a marker of osteosarcoma associa... BeFree 21826087 Detail
0.005 renal cell carcinoma In individual single nucleotide polymorphism analysis, after adjustment for mult... BeFree 18711149 Detail
0.084 Malignant neoplasm of breast The association between ERCC2 Asp312Asn polymorphism and breast cancer risk: a m... BeFree 20127278 Detail
0.010 Malignant neoplasm of urinary bladder In multifactor dimensionality reduction (MDR) analysis, the five-factor model in... BeFree 17728339 Detail
0.084 Malignant neoplasm of urinary bladder In multifactor dimensionality reduction (MDR) analysis, the five-factor model in... BeFree 17728339 Detail
0.214 Malignant neoplasm of lung Polymorphism of ERCC2 Asp312Asn with lung cancer risk: evidence from 20,101 subj... BeFree 24083550 Detail
0.084 Malignant neoplasm of urinary bladder Subtle but significant cancer risk was observed for the XPD Asp 312 Asn polymorp... BeFree 18349268 Detail
0.002 Osteosarcoma of bone This study suggests that XPD rs1799793 could be a marker of osteosarcoma associa... BeFree 21826087 Detail
0.214 Malignant neoplasm of lung ERCC2 Asp/Asn (rs1799793) polymorphism may also affect lung cancer risk among no... BeFree 21195504 Detail
<0.001 Carcinoma of bladder In multifactor dimensionality reduction (MDR) analysis, the five-factor model in... BeFree 17728339 Detail
0.025 Esophageal Neoplasms A pooled analysis of the ERCC2 Asp312Asn polymorphism and esophageal cancer susc... BeFree 24234258 Detail
0.021 Cancer of Head and Neck Marginally statistically significant association was found for XRCC1 codon 399 (... BeFree 20429839 Detail
0.014 Carcinoma of lung ERCC2 Asp/Asn (rs1799793) polymorphism may also affect lung cancer risk among no... BeFree 21195504 Detail
0.029 Malignant neoplasm of esophagus A pooled analysis of the ERCC2 Asp312Asn polymorphism and esophageal cancer susc... BeFree 24234258 Detail
0.005 Carcinoma of bladder Subtle but significant cancer risk was observed for the XPD Asp 312 Asn polymorp... BeFree 18349268 Detail
0.012 Cancer of Head and Neck Marginally statistically significant association was found for XRCC1 codon 399 (... BeFree 20429839 Detail
0.001 esophageal carcinoma A pooled analysis of the ERCC2 Asp312Asn polymorphism and esophageal cancer susc... BeFree 24234258 Detail
0.084 Malignant neoplasm of breast Significant association of XPD Asp312Asn polymorphism with breast cancer in Taiw... BeFree 21793320 Detail
0.012 Cancer of Head and Neck Associations between XPD Asp312Asn polymorphism and risk of head and neck cancer... BeFree 22536360 Detail
0.005 Carcinoma of bladder In multifactor dimensionality reduction (MDR) analysis, the five-factor model in... BeFree 17728339 Detail
0.004 Squamous cell carcinoma of esophagus Our meta-analysis suggested that the ERCC2 Asp312Asn polymorphism might be assoc... BeFree 24234258 Detail
0.014 Carcinoma of lung Polymorphism of ERCC2 Asp312Asn with lung cancer risk: evidence from 20,101 subj... BeFree 24083550 Detail
0.008 breast carcinoma The association between ERCC2 Asp312Asn polymorphism and breast cancer risk: a m... BeFree 20127278 Detail
0.030 colorectal cancer In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
0.010 Glioma No evidence of significant associations between ERCC2 rs1799793, OGG1 rs1052133,... BeFree 24500421 Detail
0.013 colorectal carcinoma In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
<0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
0.006 Leukoplakia We examined the association of 13 variants in eight genes (rs4646903, rs2031920,... BeFree 21741876 Detail
0.001 prostate carcinoma We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in ... BeFree 19914098 Detail
0.047 Malignant neoplasm of prostate We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in ... BeFree 19914098 Detail
0.007 prostate carcinoma We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in ... BeFree 19914098 Detail
<0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
0.006 colorectal carcinoma In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
0.004 Carcinoma of bladder Among four DNA repair gene polymorphisms, the OGG1 326 Ser/Cys and XPD 312 Asp/A... BeFree 25089939 Detail
<0.001 Paroxysmal atrial tachycardia We investigated the association of 10 base-excision and nucleotide-excision repa... BeFree 17531525 Detail
0.003 prostate carcinoma We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in ... BeFree 19914098 Detail
0.015 Malignant neoplasm of prostate We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in ... BeFree 19914098 Detail
<0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
0.030 Malignant neoplasm of urinary bladder Among four DNA repair gene polymorphisms, the OGG1 326 Ser/Cys and XPD 312 Asp/A... BeFree 25089939 Detail
0.008 Malignant neoplasm of prostate We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in ... BeFree 19914098 Detail
<0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
0.003 Carcinoma of lung We investigated the association of 10 base-excision and nucleotide-excision repa... BeFree 17531525 Detail
0.001 prostate carcinoma We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in ... BeFree 19914098 Detail
0.004 Malignant neoplasm of prostate We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in ... BeFree 19914098 Detail
0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
0.036 Malignant neoplasm of lung We investigated the association of 10 base-excision and nucleotide-excision repa... BeFree 17531525 Detail
<0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
0.062 colorectal cancer In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
0.084 Carcinoma of lung We investigated the association of 10 base-excision and nucleotide-excision repa... BeFree 17531525 Detail
<0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
0.006 Leukoplakia We examined the association of 13 variants in eight genes (rs4646903, rs2031920,... BeFree 21741876 Detail
0.044 Malignant neoplasm of lung We investigated the association of 10 base-excision and nucleotide-excision repa... BeFree 17531525 Detail
0.037 Lung Neoplasms Functional polymorphisms in XPD (Asp312Asn, rs1799793 and Lys751Gln, rs1052559),... BeFree 15564288 Detail
0.005 Carcinoma of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
0.021 Malignant neoplasm of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
0.020 Carcinoma of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
<0.001 Carcinoma of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
<0.001 Carcinoma of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
0.214 Malignant neoplasm of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
0.100 Malignant neoplasm of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
<0.001 Carcinoma of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
0.010 Malignant neoplasm of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
0.003 Malignant neoplasm of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
0.014 Carcinoma of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 Detail
<0.001 Malignant neoplasm of lung SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... BeFree 21739480 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 Cancer of Head and Neck We thus conclude that the XPD Asp312Asn and APE1 Asp148Glu polymorphisms increas... BeFree 25916209 Detail
0.003 acoustic neuroma Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) an... BeFree 20150366 Detail
0.003 acoustic neuroma Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) an... BeFree 20150366 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) AND not specified ClinVar Detail
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) AND Xeroderma pigmentosum, group D ClinVar Detail
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) AND not provided ClinVar Detail
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) AND Cerebrooculofacioskeletal syndrome 2 ClinVar Detail
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) AND Trichothiodystrophy 1, photosensitive ClinVar Detail
Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(t... DisGeNET Detail
By the Cox analysis, the CC genotype of ERCC1 rs11615, AA genotype of ERCC2 rs1799793, and CC genoty... DisGeNET Detail
In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN rs1805794 polymorphi... DisGeNET Detail
Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... DisGeNET Detail
Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... DisGeNET Detail
In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN rs1805794 polymorphi... DisGeNET Detail
The correlation between ERCC1 polymorphisms (rs11615 and rs3212986) and XPD polymorphisms (rs13181 a... DisGeNET Detail
In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN rs1805794 polymorphi... DisGeNET Detail
Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... DisGeNET Detail
Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... DisGeNET Detail
By the Cox analysis, the CC genotype of ERCC1 rs11615, AA genotype of ERCC2 rs1799793, and CC genoty... DisGeNET Detail
In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN rs1805794 polymorphi... 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 data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
XPD Lys751Gln and Asp312Asn polymorphisms and susceptibility to skin cancer: a meta-analysis of 17 c... DisGeNET Detail
Comprehensive assessment of associations between ERCC2 Lys751Gln/Asp312Asn polymorphisms and risk of... DisGeNET Detail
We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERC... DisGeNET Detail
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
We investigated the relationship between polymorphisms in two NER genes, XPC (poly (AT) insertion/de... DisGeNET Detail
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
XPD Lys751Gln and not Asp312Asn polymorphism was associated with chemotherapy-induced cardiotoxicity... DisGeNET Detail
XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, a... DisGeNET Detail
In a Minnesota-based case-control study of cases with only adenomatous polyps (n = 384), only hyperp... DisGeNET Detail
These interactions were stronger for rectal cancer cases (heterogeneity test P = 0.002 for XPD Asp31... DisGeNET Detail
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
To investigate the relationship between DNA repair and NHL we analysed polymorphisms in XPD (R156R, ... DisGeNET Detail
The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cross complementing gene... DisGeNET Detail
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
In a Minnesota-based case-control study of cases with only adenomatous polyps (n = 384), only hyperp... DisGeNET Detail
The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and pancreatic cancer risk. DisGeNET Detail
The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cross complementing gene... DisGeNET Detail
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
We therefore examined XPD polymorphisms at Lys751Gln and Asp312Asn in 341 white lung cancer cases an... DisGeNET Detail
To summarize published data on the association between NER genes and responses to platinum-based che... DisGeNET Detail
We investigated the relationship between polymorphisms in two NER genes, XPC (poly (AT) insertion/de... DisGeNET Detail
We investigated the relationship between polymorphisms in two NER genes, XPC (poly (AT) insertion/de... DisGeNET Detail
XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, a... DisGeNET Detail
In a Minnesota-based case-control study of cases with only adenomatous polyps (n = 384), only hyperp... DisGeNET Detail
We tested whether polymorphisms in the NER genes XPA (A23G) and XPD (Asp312Asn and Lys751Gln) modify... DisGeNET Detail
XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, a... DisGeNET Detail
Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782)... DisGeNET Detail
Potential xeroderma pigmentosum group D (XPD), also called excision repair cross-complimentary group... DisGeNET Detail
The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and pancreatic cancer risk. DisGeNET Detail
ERCC2 Lys751Gln and Asp312Asn polymorphisms and gastric cancer risk: a meta-analysis. DisGeNET Detail
We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERC... DisGeNET Detail
We tested whether polymorphisms in the NER genes XPA (A23G) and XPD (Asp312Asn and Lys751Gln) modify... DisGeNET Detail
Meta-analysis of two ERCC2 (XPD) polymorphisms, Asp312Asn and Lys751Gln, in breast cancer. DisGeNET Detail
We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERC... DisGeNET Detail
The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cross complementing gene... DisGeNET Detail
ERCC2/XPD Lys751Gln and Asp312Asn gene polymorphism and lung cancer risk: a meta-analysis involving ... DisGeNET Detail
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
We determined the risk of colorectal cancer in association with the four polymorphisms XPA A23G, XPC... DisGeNET Detail
A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC2/XPD Lys751Gln but ... DisGeNET Detail
ERCC2 Lys751Gln and Asp312Asn polymorphisms and gastric cancer risk: a meta-analysis. DisGeNET Detail
We determined the risk of colorectal cancer in association with the four polymorphisms XPA A23G, XPC... DisGeNET Detail
We therefore examined XPD polymorphisms at Lys751Gln and Asp312Asn in 341 white lung cancer cases an... DisGeNET Detail
Our findings indicate a reduced NMSC risk in relation to XPD Asp312Asn and Lys751Gln variants. DisGeNET Detail
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782)... DisGeNET Detail
Meta-analysis of two ERCC2 (XPD) polymorphisms, Asp312Asn and Lys751Gln, in breast cancer. DisGeNET Detail
XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, a... DisGeNET Detail
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
ERCC2/XPD Lys751Gln and Asp312Asn gene polymorphism and lung cancer risk: a meta-analysis involving ... DisGeNET Detail
A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC2/XPD Lys751Gln but ... DisGeNET Detail
We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERC... DisGeNET Detail
These findings suggest that polymorphisms of XPC-rs2228000, XPD-rs1799793 and XPG-rs17655 in the NER... DisGeNET Detail
In a dominant model, we found that polymorphisms of XPC-rs2228000, XPD-rs1799793 and XPG-rs17655 wer... DisGeNET Detail
In a dominant model, we found that polymorphisms of XPC-rs2228000, XPD-rs1799793 and XPG-rs17655 wer... DisGeNET Detail
In a dominant model, we found that polymorphisms of XPC-rs2228000, XPD-rs1799793 and XPG-rs17655 wer... DisGeNET Detail
Our meta-analysis suggested that the ERCC2 Asp312Asn polymorphism might be associated with increased... DisGeNET Detail
Significant association of XPD Asp312Asn polymorphism with breast cancer in Taiwanese patients. DisGeNET Detail
This study suggests that XPD rs1799793 could be a marker of osteosarcoma associated with features co... DisGeNET Detail
In individual single nucleotide polymorphism analysis, after adjustment for multiple comparisons, a ... DisGeNET Detail
The association between ERCC2 Asp312Asn polymorphism and breast cancer risk: a meta-analysis involvi... DisGeNET Detail
In multifactor dimensionality reduction (MDR) analysis, the five-factor model including smoking, CCN... DisGeNET Detail
In multifactor dimensionality reduction (MDR) analysis, the five-factor model including smoking, CCN... DisGeNET Detail
Polymorphism of ERCC2 Asp312Asn with lung cancer risk: evidence from 20,101 subjects. DisGeNET Detail
Subtle but significant cancer risk was observed for the XPD Asp 312 Asn polymorphism in bladder canc... DisGeNET Detail
This study suggests that XPD rs1799793 could be a marker of osteosarcoma associated with features co... DisGeNET Detail
ERCC2 Asp/Asn (rs1799793) polymorphism may also affect lung cancer risk among nonsmokers. DisGeNET Detail
In multifactor dimensionality reduction (MDR) analysis, the five-factor model including smoking, CCN... DisGeNET Detail
A pooled analysis of the ERCC2 Asp312Asn polymorphism and esophageal cancer susceptibility. DisGeNET Detail
Marginally statistically significant association was found for XRCC1 codon 399 (for Caucasians only)... DisGeNET Detail
ERCC2 Asp/Asn (rs1799793) polymorphism may also affect lung cancer risk among nonsmokers. DisGeNET Detail
A pooled analysis of the ERCC2 Asp312Asn polymorphism and esophageal cancer susceptibility. DisGeNET Detail
Subtle but significant cancer risk was observed for the XPD Asp 312 Asn polymorphism in bladder canc... DisGeNET Detail
Marginally statistically significant association was found for XRCC1 codon 399 (for Caucasians only)... DisGeNET Detail
A pooled analysis of the ERCC2 Asp312Asn polymorphism and esophageal cancer susceptibility. DisGeNET Detail
Significant association of XPD Asp312Asn polymorphism with breast cancer in Taiwanese patients. DisGeNET Detail
Associations between XPD Asp312Asn polymorphism and risk of head and neck cancer: a meta-analysis ba... DisGeNET Detail
In multifactor dimensionality reduction (MDR) analysis, the five-factor model including smoking, CCN... DisGeNET Detail
Our meta-analysis suggested that the ERCC2 Asp312Asn polymorphism might be associated with increased... DisGeNET Detail
Polymorphism of ERCC2 Asp312Asn with lung cancer risk: evidence from 20,101 subjects. DisGeNET Detail
The association between ERCC2 Asp312Asn polymorphism and breast cancer risk: a meta-analysis involvi... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
No evidence of significant associations between ERCC2 rs1799793, OGG1 rs1052133, XRCC1 rs25489, XRCC... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
We examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 nu... DisGeNET Detail
We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in 5 genes involved in ... DisGeNET Detail
We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in 5 genes involved in ... DisGeNET Detail
We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in 5 genes involved in ... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
Among four DNA repair gene polymorphisms, the OGG1 326 Ser/Cys and XPD 312 Asp/Asn heterozygous geno... DisGeNET Detail
We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... DisGeNET Detail
We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in 5 genes involved in ... DisGeNET Detail
We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in 5 genes involved in ... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Among four DNA repair gene polymorphisms, the OGG1 326 Ser/Cys and XPD 312 Asp/Asn heterozygous geno... DisGeNET Detail
We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in 5 genes involved in ... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... DisGeNET Detail
We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in 5 genes involved in ... DisGeNET Detail
We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in 5 genes involved in ... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
We examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 nu... DisGeNET Detail
We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphism... DisGeNET Detail
Functional polymorphisms in XPD (Asp312Asn, rs1799793 and Lys751Gln, rs1052559), a protein required ... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... DisGeNET Detail
We thus conclude that the XPD Asp312Asn and APE1 Asp148Glu polymorphisms increase the risk for HNC i... DisGeNET Detail
We thus conclude that the XPD Asp312Asn and APE1 Asp148Glu polymorphisms increase the risk for HNC i... DisGeNET Detail
Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(t... DisGeNET Detail
Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(t... 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
rs1799793 dbSNP
Genome
hg19
Position
chr19:45,867,259-45,867,259
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1181
Mean of sample read depth (HGVD)
56.83
Standard deviation of sample read depth (HGVD)
26.71
Number of reference allele (HGVD)
2276
Number of alternative allele (HGVD)
86
Allele Frequency (HGVD)
0.03640982218458933
Gene Symbol (HGVD)
ERCC2
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))
rs1799793
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0366
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
612
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16744
East Asian Chromosome Counts (ExAC)
300
East Asian Allele Counts (ExAC)
40
East Asian Heterozygous Counts (ExAC)
36
East Asian Homozygous Counts (ExAC)
2
East Asian Allele Frequency (ExAC)
0.13333333333333333
Chromosome Counts in All Race (ExAC)
15646
Allele Counts in All Race (ExAC)
5927
Heterozygous Counts in All Race (ExAC)
3723
Homozygous Counts in All Race (ExAC)
1102
Allele Frequency in All Race (ExAC)
0.37881886744215776
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