chr19:45364001:C>T Detail (hg38) (ERCC2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:45,867,259-45,867,259 View the variant detail on this assembly version. |
hg38 | chr19:45,364,001-45,364,001 |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2021-12-03 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2023-07-07 | criteria provided, multiple submitters, no conflicts | Xeroderma pigmentosum, group D |
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Detail |
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2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2021-07-30 | criteria provided, single submitter | cerebrooculofacioskeletal syndrome 2 |
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Detail |
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2021-07-30 | criteria provided, single submitter | Trichothiodystrophy 1, photosensitive |
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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
Descrption | Source | Links |
---|---|---|
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>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>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>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>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>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>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>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>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>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>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
- hg38
- Position
- chr19:45,364,001-45,364,001
- 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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