chr13:103528002:G>C Detail (hg19) (ERCC5, BIVM-ERCC5)

Information

Genome

Assembly Position
hg19 chr13:103,528,002-103,528,002
hg38 chr13:102,875,652-102,875,652 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000639435.1:c.4672G>C ENST00000639435.1:p.Asp1558His
ENST00000639132.1:c.3985G>C ENST00000639132.1:p.Asp1329His
Type Transcript Protein
RefSeq
Ensemble ENST00000652613.1:c.2806G>C ENST00000652613.1:p.Asp936His
ENST00000652225.2:c.3310G>C ENST00000652225.2:p.Asp1104His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.555
ToMMo:0.559
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.506

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM
HGNC 43690 HGNC
Ensembl ENSG00000270181 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv49707509 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 133530 OMIM
HGNC 3437 HGNC
Ensembl ENSG00000134899 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv49707509 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign criteria provided, single submitter not specified germline Detail
Benign 2021-07-30 criteria provided, multiple submitters, no conflicts Xeroderma pigmentosum, group G germline Detail
Benign 2021-07-30 criteria provided, single submitter cerebrooculofacioskeletal syndrome 3 germline Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided 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
0.006 breast carcinoma Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C all... BeFree 24582975 Detail
0.003 Malignant neoplasm of larynx In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs1765... BeFree 24563277 Detail
<0.001 Carcinoma of larynx In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs1765... BeFree 24563277 Detail
0.156 Non-small cell lung carcinoma We investigated the association of three DNA repair gene polymorphisms - Asn118A... BeFree 21766907 Detail
0.018 Malignant neoplasm of breast Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C all... BeFree 24582975 Detail
0.019 Malignant neoplasm of breast Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C all... BeFree 24582975 Detail
<0.001 Osteosarcoma of bone Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... BeFree 21826087 Detail
0.002 breast carcinoma Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C all... BeFree 24582975 Detail
0.003 Malignant neoplasm of larynx In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs1765... BeFree 24563277 Detail
0.002 Osteosarcoma of bone Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... BeFree 21826087 Detail
<0.001 Carcinoma of larynx In conclusion, our study suggests that ERCC1 rs11615 and ERCC5 rs17655 polymorph... BeFree 24582975 Detail
<0.001 Carcinoma of larynx In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs1765... BeFree 24563277 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
0.003 Malignant neoplasm of larynx In conclusion, our study suggests that ERCC1 rs11615 and ERCC5 rs17655 polymorph... BeFree 24582975 Detail
0.002 Non-small cell lung carcinoma We investigated the association of three DNA repair gene polymorphisms - Asn118A... BeFree 21766907 Detail
0.005 Non-small cell lung carcinoma We investigated the association of three DNA repair gene polymorphisms - Asn118A... BeFree 21766907 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
<0.001 Congenital chromosomal disease We analysed the associations between genetic polymorphisms in genes coding for D... BeFree 14729591 Detail
<0.001 polyps In a Minnesota-based case-control study of cases with only adenomatous polyps (n... BeFree 16284370 Detail
0.003 Congenital chromosomal disease We analysed the associations between genetic polymorphisms in genes coding for D... BeFree 14729591 Detail
<0.001 polyps In a Minnesota-based case-control study of cases with only adenomatous polyps (n... BeFree 16284370 Detail
0.008 melanoma ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognosti... BeFree 21390047 Detail
0.005 Congenital chromosomal disease We analysed the associations between genetic polymorphisms in genes coding for D... BeFree 14729591 Detail
<0.001 Adenomatous Polyps In a Minnesota-based case-control study of cases with only adenomatous polyps (n... BeFree 16284370 Detail
<0.001 leiomyosarcoma DNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosa... BeFree 16646069 Detail
0.032 melanoma ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognosti... BeFree 21390047 Detail
0.002 Congenital chromosomal disease We analysed the associations between genetic polymorphisms in genes coding for D... BeFree 14729591 Detail
<0.001 leiomyosarcoma DNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosa... BeFree 16646069 Detail
0.004 breast carcinoma In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
<0.001 breast carcinoma In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
0.032 Malignant neoplasm of breast In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
0.010 Malignant neoplasm of breast In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
0.030 Malignant neoplasm of lung Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was asso... BeFree 18709642 Detail
0.002 Carcinoma of lung Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was asso... BeFree 18709642 Detail
0.001 Carcinoma of lung Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was asso... BeFree 18709642 Detail
0.001 Malignant neoplasm of lung Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was asso... BeFree 18709642 Detail
0.214 Malignant neoplasm of lung From MDR analysis, in Latinos, smoking and 3 SNPs (ERCC2 rs171140, ERCC5 rs17655... BeFree 18709642 Detail
0.014 Carcinoma of lung From MDR analysis, in Latinos, smoking and 3 SNPs (ERCC2 rs171140, ERCC5 rs17655... BeFree 18709642 Detail
0.003 Glioma In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... BeFree 23534771 Detail
0.002 Carcinoma of lung Genetic association between ERCC5 rs17655 polymorphism and lung cancer risk: evi... BeFree 24596032 Detail
0.001 Carcinoma of bladder Quantitative assessment of the association between XPG Asp1104His polymorphism a... BeFree 24061640 Detail
0.030 Malignant neoplasm of lung Genetic association between ERCC5 rs17655 polymorphism and lung cancer risk: evi... BeFree 24596032 Detail
<0.001 T-Cell Lymphoma In particular, ERCC5 Asp1104His was associated with increased risk of NHL overal... BeFree 16738949 Detail
0.016 colorectal cancer The aim of this study was to investigate the associations between the APE1 Asp14... BeFree 21561390 Detail
0.003 lymphoma Herein we performed a case-control study evaluating the influence of three singl... BeFree 23818366 Detail
0.006 sarcoma Our results raise the potential implication of the XPG Asp1104His polymorphism i... BeFree 16646069 Detail
0.021 Glioma In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... BeFree 23534771 Detail
<0.001 Secondary malignant neoplasm of lymph node Cox proportional hazards analyses demonstrated that variant genotypes of XPG Asp... BeFree 22213216 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 Oropharynx (excludes nasopharynx) We investigated the effects of XPG His1104Asp polymorphism (rs17655) on the risk... BeFree 16094634 Detail
0.032 Malignant neoplasm of breast Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and br... BeFree 21424776 Detail
0.008 meningioma In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... BeFree 23534771 Detail
0.002 breast carcinoma Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and br... BeFree 21424776 Detail
0.008 melanoma Current evidences on the XPG Asp1104His polymorphism and melanoma susceptibility... BeFree 25231183 Detail
0.006 squamous cell carcinoma We investigated the effects of XPG His1104Asp polymorphism (rs17655) on the risk... BeFree 16094634 Detail
<0.001 Squamous cell carcinoma of oropharynx In a dominant model, we found that polymorphisms of XPC-rs2228000, XPD-rs1799793... BeFree 23335232 Detail
0.003 lymphoma Herein we performed a case-control study evaluating the influence of three singl... BeFree 23818366 Detail
0.020 Malignant neoplasm of urinary bladder Quantitative assessment of the association between XPG Asp1104His polymorphism a... BeFree 24061640 Detail
0.030 Malignant neoplasm of lung We investigated the relationship between the His1104Asp polymorphism in the XPG ... BeFree 12869423 Detail
0.019 Malignant neoplasm of breast Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and br... BeFree 21424776 Detail
0.016 colorectal cancer Previous studies have reported that the Asp1104His polymorphism in Xeroderma Pig... BeFree 25332048 Detail
0.442 Xeroderma pigmentosum, group G Previous studies have reported that the Asp1104His polymorphism in Xeroderma Pig... BeFree 25332048 Detail
0.002 breast carcinoma Of the 6 ERCC variants examined, only ERCC5 rs17655 showed a borderline main eff... BeFree 18767034 Detail
0.019 Malignant neoplasm of breast Of the 6 ERCC variants examined, only ERCC5 rs17655 showed a borderline main eff... BeFree 18767034 Detail
<0.001 Squamous cell carcinoma of oropharynx In a dominant model, we found that polymorphisms of XPC-rs2228000, XPD-rs1799793... BeFree 23335232 Detail
0.002 colorectal carcinoma Previous studies have reported that the Asp1104His polymorphism in Xeroderma Pig... BeFree 25332048 Detail
0.008 meningioma In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... BeFree 23534771 Detail
<0.001 Squamous cell carcinoma of oropharynx In a dominant model, we found that polymorphisms of XPC-rs2228000, XPD-rs1799793... BeFree 23335232 Detail
0.002 Carcinoma of lung We investigated the relationship between the His1104Asp polymorphism in the XPG ... BeFree 12869423 Detail
0.004 breast carcinoma Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and br... BeFree 21424776 Detail
0.010 Glioma In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... BeFree 23534771 Detail
0.002 colorectal carcinoma The aim of this study was to investigate the associations between the APE1 Asp14... BeFree 21561390 Detail
0.136 lymphoma Herein we performed a case-control study evaluating the influence of three singl... BeFree 23818366 Detail
0.003 meningioma In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... BeFree 23534771 Detail
0.026 Malignant neoplasm of breast Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.032 Malignant neoplasm of breast Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.004 breast carcinoma Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.004 coronary artery disease The aim of this study was to investigate the relationship between AP-endonucleas... BeFree 23368530 Detail
0.098 Malignant neoplasm of breast Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.018 breast carcinoma Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.005 breast carcinoma Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.003 coronary artery disease The aim of this study was to investigate the relationship between AP-endonucleas... BeFree 23368530 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_000123.4(ERCC5):c.3310G>C (p.Asp1104His) AND not specified ClinVar Detail
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) AND Xeroderma pigmentosum, group G ClinVar Detail
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) AND Cerebrooculofacioskeletal syndrome 3 ClinVar Detail
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) AND not provided ClinVar Detail
Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(t... DisGeNET Detail
Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C allele and XPG/ERCC5 rs... DisGeNET Detail
In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs17655 are associated wit... DisGeNET Detail
In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs17655 are associated wit... DisGeNET Detail
We investigated the association of three DNA repair gene polymorphisms - Asn118Asn in ERCC1 (rs11615... DisGeNET Detail
Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C allele and XPG/ERCC5 rs... DisGeNET Detail
Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C allele and XPG/ERCC5 rs... DisGeNET Detail
Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... DisGeNET Detail
Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C allele and XPG/ERCC5 rs... DisGeNET Detail
In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs17655 are associated wit... DisGeNET Detail
Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... DisGeNET Detail
In conclusion, our study suggests that ERCC1 rs11615 and ERCC5 rs17655 polymorphisms are associated ... DisGeNET Detail
In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs17655 are associated wit... 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 study suggests that ERCC1 rs11615 and ERCC5 rs17655 polymorphisms are associated ... DisGeNET Detail
We investigated the association of three DNA repair gene polymorphisms - Asn118Asn in ERCC1 (rs11615... DisGeNET Detail
We investigated the association of three DNA repair gene polymorphisms - Asn118Asn in ERCC1 (rs11615... 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
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XP... DisGeNET Detail
In a Minnesota-based case-control study of cases with only adenomatous polyps (n = 384), only hyperp... DisGeNET Detail
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XP... DisGeNET Detail
In a Minnesota-based case-control study of cases with only adenomatous polyps (n = 384), only hyperp... DisGeNET Detail
ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognostic factors for the cl... DisGeNET Detail
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XP... DisGeNET Detail
In a Minnesota-based case-control study of cases with only adenomatous polyps (n = 384), only hyperp... DisGeNET Detail
DNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosarcomas protuberans (... DisGeNET Detail
ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognostic factors for the cl... DisGeNET Detail
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XP... DisGeNET Detail
DNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosarcomas protuberans (... DisGeNET Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... DisGeNET Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... DisGeNET Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... DisGeNET Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... DisGeNET Detail
Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was associated with increase... DisGeNET Detail
Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was associated with increase... DisGeNET Detail
Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was associated with increase... DisGeNET Detail
Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was associated with increase... DisGeNET Detail
From MDR analysis, in Latinos, smoking and 3 SNPs (ERCC2 rs171140, ERCC5 rs17655 and LIG1 rs20581) t... DisGeNET Detail
From MDR analysis, in Latinos, smoking and 3 SNPs (ERCC2 rs171140, ERCC5 rs17655 and LIG1 rs20581) t... DisGeNET Detail
In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... DisGeNET Detail
Genetic association between ERCC5 rs17655 polymorphism and lung cancer risk: evidence based on a met... DisGeNET Detail
Quantitative assessment of the association between XPG Asp1104His polymorphism and bladder cancer ri... DisGeNET Detail
Genetic association between ERCC5 rs17655 polymorphism and lung cancer risk: evidence based on a met... DisGeNET Detail
In particular, ERCC5 Asp1104His was associated with increased risk of NHL overall (OR: 1.46; 95% CI:... DisGeNET Detail
The aim of this study was to investigate the associations between the APE1 Asp148Glu, hOGG1 Ser326Cy... DisGeNET Detail
Herein we performed a case-control study evaluating the influence of three single nucleotide polymor... DisGeNET Detail
Our results raise the potential implication of the XPG Asp1104His polymorphism in the occurrence of ... DisGeNET Detail
In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... DisGeNET Detail
Cox proportional hazards analyses demonstrated that variant genotypes of XPG Asp1104His [hazard rati... DisGeNET Detail
These findings suggest that polymorphisms of XPC-rs2228000, XPD-rs1799793 and XPG-rs17655 in the NER... DisGeNET Detail
We investigated the effects of XPG His1104Asp polymorphism (rs17655) on the risk of lung cancer and ... DisGeNET Detail
Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a ... DisGeNET Detail
In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... DisGeNET Detail
Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a ... DisGeNET Detail
Current evidences on the XPG Asp1104His polymorphism and melanoma susceptibility: a meta-analysis ba... DisGeNET Detail
We investigated the effects of XPG His1104Asp polymorphism (rs17655) on the risk of lung cancer and ... DisGeNET Detail
In a dominant model, we found that polymorphisms of XPC-rs2228000, XPD-rs1799793 and XPG-rs17655 wer... DisGeNET Detail
Herein we performed a case-control study evaluating the influence of three single nucleotide polymor... DisGeNET Detail
Quantitative assessment of the association between XPG Asp1104His polymorphism and bladder cancer ri... DisGeNET Detail
We investigated the relationship between the His1104Asp polymorphism in the XPG gene and the risk of... DisGeNET Detail
Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a ... DisGeNET Detail
Previous studies have reported that the Asp1104His polymorphism in Xeroderma Pigmentosum complementa... DisGeNET Detail
Previous studies have reported that the Asp1104His polymorphism in Xeroderma Pigmentosum complementa... DisGeNET Detail
Of the 6 ERCC variants examined, only ERCC5 rs17655 showed a borderline main effect association with... DisGeNET Detail
Of the 6 ERCC variants examined, only ERCC5 rs17655 showed a borderline main effect association with... DisGeNET Detail
In a dominant model, we found that polymorphisms of XPC-rs2228000, XPD-rs1799793 and XPG-rs17655 wer... DisGeNET Detail
Previous studies have reported that the Asp1104His polymorphism in Xeroderma Pigmentosum complementa... DisGeNET Detail
In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... DisGeNET Detail
In a dominant model, we found that polymorphisms of XPC-rs2228000, XPD-rs1799793 and XPG-rs17655 wer... DisGeNET Detail
We investigated the relationship between the His1104Asp polymorphism in the XPG gene and the risk of... DisGeNET Detail
Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a ... DisGeNET Detail
In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... DisGeNET Detail
The aim of this study was to investigate the associations between the APE1 Asp148Glu, hOGG1 Ser326Cy... DisGeNET Detail
Herein we performed a case-control study evaluating the influence of three single nucleotide polymor... DisGeNET Detail
In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
The aim of this study was to investigate the relationship between AP-endonuclease-1 (Asp148Glu), XRC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
The aim of this study was to investigate the relationship between AP-endonuclease-1 (Asp148Glu), XRC... 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
rs17655 dbSNP
Genome
hg19
Position
chr13:103,528,002-103,528,002
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
48.67
Standard deviation of sample read depth (HGVD)
25.80
Number of reference allele (HGVD)
1077
Number of alternative allele (HGVD)
1341
Allele Frequency (HGVD)
0.5545905707196029
Gene Symbol (HGVD)
ERCC5
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))
rs17655
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5594
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9376
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
4369
East Asian Heterozygous Counts (ExAC)
2157
East Asian Homozygous Counts (ExAC)
1106
East Asian Allele Frequency (ExAC)
0.5062572421784473
Chromosome Counts in All Race (ExAC)
121182
Allele Counts in All Race (ExAC)
33650
Heterozygous Counts in All Race (ExAC)
22894
Homozygous Counts in All Race (ExAC)
5378
Allele Frequency in All Race (ExAC)
0.27768150385370766
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