chr14:103697609:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr14:104,163,946-104,181,841 
hg38 chr14:103,697,609-103,715,504

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.015 squamous cell carcinoma NA BeFree,GAD,LHGDN Detail
<0.001 Malignant tumor of cervix NA BeFree Detail
0.005 Uterine Cervical Neoplasm NA GAD Detail
0.019 Chromosome Aberrations NA GAD Detail
0.003 Congenital chromosomal disease NA BeFree Detail
<0.001 ulcerative colitis Similarly, the CT genotype of XRCC3 gene was predominant in the UC group and inc... BeFree 25247297 Detail
0.020 Colorectal Neoplasms NA GAD,LHGDN Detail
0.002 conjunctivitis NA GAD Detail
0.002 Deglutition Disorders NA GAD Detail
0.002 diarrhea NA GAD Detail
0.033 DNA Damage NA GAD Detail
<0.001 dysplastic nevus syndrome NA BeFree Detail
0.002 Endometrial Neoplasms NA GAD Detail
0.127 Esophageal Neoplasms NA BeFree,CTD_human,GAD Detail
<0.001 Fanconi anemia NA BeFree Detail
0.002 Fibrosis NA GAD Detail
0.002 gastritis NA GAD Detail
<0.001 gastroesophageal reflux disease NA BeFree Detail
0.003 glioblastoma NA BeFree,GAD Detail
0.010 Glioma NA BeFree,GAD Detail
0.135 Head and Neck Neoplasms NA CTD_human,GAD,LHGDN Detail
0.085 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 Hodgkin Disease NA GAD Detail
0.002 Kidney Neoplasm NA GAD Detail
0.002 Laryngeal neoplasm NA GAD Detail
0.120 Lead Poisoning NA CTD_human Detail
0.003 Congenital chromosomal disease We analysed the associations between genetic polymorphisms in genes coding for D... BeFree 14729591 Detail
<0.001 Paroxysmal atrial tachycardia Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair gene... BeFree 16373199 Detail
0.002 Squamous cell carcinoma of the head and neck Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 A... BeFree 21419115 Detail
<0.001 Acute lymphocytic leukemia NBN and XRCC3 genetic variants in childhood acute lymphoblastic leukaemia. BeFree 25176580 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 NA BeFree Detail
0.012 Leukemia, Myelocytic, Acute Genetic polymorphisms of RAD51 and XRCC3 and acute myeloid leukemia risk: a meta... BeFree,GAD,LHGDN 23978154 Detail
0.002 Chronic Obstructive Airway Disease NA GAD Detail
0.002 Lung Neoplasms NA GAD Detail
0.003 Lupus Erythematosus, Systemic NA BeFree,GAD Detail
0.005 Lymphoma, Non-Hodgkin NA GAD Detail
0.002 Animal Mammary Neoplasms NA GAD Detail
0.120 Mammary Neoplasms, Experimental NA CTD_human Detail
0.133 melanoma NA BeFree,CTD_human,GAD,LHGDN Detail
0.002 Meningeal Neoplasms NA GAD Detail
0.008 meningioma NA BeFree,GAD Detail
0.122 Mesothelioma NA CTD_human,GAD Detail
0.010 Mouth Neoplasms NA GAD,LHGDN Detail
0.005 multiple myeloma NA BeFree,GAD Detail
0.002 multiple sclerosis NA GAD Detail
0.003 myocardial infarction NA BeFree,GAD Detail
0.005 Nasopharyngeal Neoplasms NA GAD Detail
0.120 Neoplasm Invasiveness NA CTD_human Detail
<0.001 Neoplasm Metastasis NA BeFree Detail
0.002 Neoplasms, Multiple Primary NA GAD Detail
0.005 Neoplasms, Radiation-Induced NA GAD Detail
0.008 meningioma In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... BeFree 23534771 Detail
0.010 Glioma In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... BeFree 23534771 Detail
0.002 Neural Tube Defects NA GAD Detail
0.002 acoustic neuroma NA GAD Detail
<0.001 Nasopharyngeal carcinoma To investigate the effect of XPD Lys751Gln, XRCC1 Arg399Gln, Arg194Trp, Arg280Hi... BeFree 17630853 Detail
0.085 Malignant neoplasm of breast Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241... BeFree 25340946 Detail
0.002 neutropenia NA GAD Detail
<0.001 Nevus NA BeFree Detail
0.011 breast carcinoma Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241... BeFree 25340946 Detail
<0.001 Melanocytic nevus NA BeFree Detail
0.005 Non-small cell lung carcinoma The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280H... BeFree 11285194 Detail
0.003 Xeroderma Pigmentosum, Complementation Group D The purpose of the study was to evaluate the association between XRCC1 Arg399Gln... BeFree 24955348 Detail
0.002 ovarian carcinoma Analyzing association of the XRCC3 gene polymorphism with ovarian cancer risk. BeFree 25006581 Detail
0.010 Pancreatic Neoplasm NA GAD,LHGDN Detail
<0.001 Paroxysmal atrial tachycardia NA BeFree Detail
0.002 Peripheral neuropathy NA GAD Detail
0.002 Pharyngeal Neoplasms NA GAD Detail
0.002 Pleural Neoplasms NA GAD Detail
0.007 Precancerous Conditions NA GAD Detail
0.002 Radiodermatitis NA GAD Detail
0.002 Dermatologic disorders NA GAD Detail
0.130 Skin Neoplasms NA CTD_human,GAD,LHGDN Detail
0.134 Stomach Neoplasms NA CTD_human,GAD Detail
<0.001 telangiectasis NA BeFree Detail
0.009 Thyroid Neoplasm NA GAD Detail
0.002 Chromosomal translocation NA GAD Detail
<0.001 Erythema NA BeFree Detail
<0.001 Uterine Fibroids NA BeFree Detail
0.003 xeroderma pigmentosum We demonstrated that apurinic endonuclease (APE), X-ray repair complementing def... BeFree,GAD 24892639 Detail
0.002 diffuse large B-cell lymphoma NA GAD Detail
0.003 Neoplasms, Second Primary NA BeFree,GAD Detail
<0.001 Migraine Disorders Our findings have suggested that APE1, XRCC3, XPD, and hOGG1 gene variants could... BeFree 24892639 Detail
0.003 Cutaneous Melanoma NA BeFree,GAD Detail
<0.001 esophageal carcinoma NA BeFree Detail
0.003 Malignant neoplasm of mouth Lack of influence of an XRCC3 gene polymorphism on oral cancer susceptibility: m... BeFree,GAD 25556470 Detail
<0.001 Malignant neoplasm of pharynx NA BeFree Detail
<0.001 uterine cancer NA BeFree Detail
0.002 Malignant neoplasm of brain NA GAD Detail
0.002 Radiation Pneumonitis NA GAD Detail
0.002 Cervical Intraepithelial Neoplasia NA GAD Detail
0.001 Lip and oral cavity carcinoma Lack of influence of an XRCC3 gene polymorphism on oral cancer susceptibility: m... BeFree 25556470 Detail
<0.001 pancreatic carcinoma NA BeFree Detail
0.029 colorectal cancer Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the ... BeFree 15914278 Detail
0.001 Experimental Organism Basal Cell Carcinoma The results indicate an increased risk of squamous cell carcinoma (SCC) for the ... BeFree 25218703 Detail
<0.001 Breast Cancer, Familial Our results suggest XRCC1 Arg399Gln and XRCC3 Thr241Met DNA repair polymorphisms... BeFree 17063276 Detail
0.085 Malignant neoplasm of breast We retrospectively evaluated the association of SNPs in DNA repair genes, XRCC1-... BeFree 17116943 Detail
0.005 colorectal carcinoma Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the ... BeFree 15914278 Detail
0.011 breast carcinoma Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the O... BeFree 15066923 Detail
<0.001 Sporadic Breast Carcinoma Our results suggest XRCC1 Arg399Gln and XRCC3 Thr241Met DNA repair polymorphisms... BeFree 17063276 Detail
0.011 breast carcinoma We retrospectively evaluated the association of SNPs in DNA repair genes, XRCC1-... BeFree 17116943 Detail
0.015 squamous cell carcinoma The results indicate an increased risk of squamous cell carcinoma (SCC) for the ... BeFree 25218703 Detail
0.085 Malignant neoplasm of breast Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the O... BeFree 15066923 Detail
0.003 Xeroderma Pigmentosum, Complementation Group D NA BeFree Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency NA BeFree Detail
<0.001 Carcinoma breast stage IV NA BeFree Detail
<0.001 Adenocarcinoma Of Esophagus NA BeFree Detail
<0.001 Adenocarcinoma of pancreas NA BeFree Detail
0.001 cervix carcinoma NA BeFree Detail
<0.001 Breast Cancer, Familial NA BeFree Detail
0.003 Malignant neoplasm of pancreas NA BeFree,GAD Detail
0.002 Chromosome Breakage NA GAD Detail
<0.001 Nijmegen breakage syndrome NA BeFree Detail
0.003 Malignant neoplasm of esophagus NA BeFree,GAD Detail
<0.001 Thyroid carcinoma NA BeFree Detail
0.002 Carcinogenesis NA BeFree Detail
0.002 cytotoxicity NA GAD Detail
0.002 subcutaneous fibrosis NA GAD Detail
0.003 Epithelial ovarian cancer NA BeFree,GAD Detail
0.005 Carcinoma of bladder NA BeFree Detail
0.006 skin carcinoma NA BeFree,GAD Detail
<0.001 biliary tract cancer NA BeFree Detail
<0.001 Helicobacter pylori infection NA BeFree Detail
0.009 Malignant neoplasm of ovary Analyzing association of the XRCC3 gene polymorphism with ovarian cancer risk. BeFree,GAD 25006581 Detail
0.002 Squamous cell carcinoma of the head and neck NA BeFree Detail
0.002 sarcoma NA GAD Detail
<0.001 Single tumor NA BeFree Detail
<0.001 Adenoma of large intestine NA BeFree Detail
<0.001 gastric cardia adenocarcinoma NA BeFree Detail
<0.001 Sporadic Breast Carcinoma NA BeFree Detail
0.001 differentiated thyroid gland carcinoma NA BeFree Detail
<0.001 Benign melanocytic nevus NA BeFree Detail
0.139 Mammary Neoplasms NA CTD_human,GAD,LHGDN Detail
<0.001 Meningioma, benign, no ICD-O subtype NA BeFree Detail
<0.001 ELECTROENCEPHALOGRAPHIC VARIANT PATTERN 1 (disorder) NA BeFree Detail
0.002 MUTAGEN SENSITIVITY NA GAD Detail
<0.001 coronary artery disease NA BeFree Detail
0.003 stomach carcinoma Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R39... BeFree 20817763 Detail
0.008 Malignant neoplasm of prostate We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in ... BeFree 19914098 Detail
<0.001 Nasopharyngeal carcinoma Contribution of double strand break repair gene XRCC3 genotypes to nasopharyngea... BeFree 25687493 Detail
0.001 prostate carcinoma We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in ... BeFree 19914098 Detail
0.005 myelodysplastic syndrome NA GAD Detail
0.007 Malignant neoplasm of stomach Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R39... BeFree 20817763 Detail
<0.001 Triple Negative Breast Neoplasms Association between single nucleotide polymorphisms (SNPs) of XRCC2 and XRCC3 ho... BeFree 24728564 Detail
<0.001 Melanocytic nevus of skin NA BeFree Detail
0.001 Experimental Organism Basal Cell Carcinoma NA BeFree Detail
0.010 adenocarcinoma NA BeFree,GAD,LHGDN Detail
0.007 adenoma NA GAD Detail
0.003 Astrocytoma NA BeFree,GAD Detail
0.002 Biliary Tract Neoplasm NA GAD Detail
0.050 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
0.003 Bladder Neoplasm NA LHGDN Detail
0.008 Brain Neoplasms NA BeFree,GAD Detail
0.003 Malignant neoplasm of larynx NA BeFree,GAD Detail
<0.001 Rectal Carcinoma NA BeFree Detail
<0.001 Malignant neoplasm of skin NA BeFree Detail
<0.001 Malignant neoplasm of thyroid NA BeFree Detail
0.122 basal cell carcinoma NA CTD_human,GAD Detail
0.005 Non-small cell lung carcinoma NA BeFree,GAD Detail
0.005 Carcinoma, Papillary NA GAD Detail
0.002 renal cell carcinoma NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
Similarly, the CT genotype of XRCC3 gene was predominant in the UC group and increased the risk for ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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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
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XP... DisGeNET Detail
Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair genes were investigated:... DisGeNET Detail
Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782)... DisGeNET Detail
NBN and XRCC3 genetic variants in childhood acute lymphoblastic leukaemia. DisGeNET Detail
NA DisGeNET Detail
Genetic polymorphisms of RAD51 and XRCC3 and acute myeloid leukemia risk: a meta-analysis. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
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In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... DisGeNET Detail
In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
To investigate the effect of XPD Lys751Gln, XRCC1 Arg399Gln, Arg194Trp, Arg280His, and XRCC3 Thr241M... DisGeNET Detail
Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms w... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms w... DisGeNET Detail
NA DisGeNET Detail
The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280His and Arg399Gln), X... DisGeNET Detail
The purpose of the study was to evaluate the association between XRCC1 Arg399Gln, Arg280His and Arg1... DisGeNET Detail
Analyzing association of the XRCC3 gene polymorphism with ovarian cancer risk. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
We demonstrated that apurinic endonuclease (APE), X-ray repair complementing defective repair in Chi... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Our findings have suggested that APE1, XRCC3, XPD, and hOGG1 gene variants could facilitate the deve... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Lack of influence of an XRCC3 gene polymorphism on oral cancer susceptibility: meta-analysis. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Lack of influence of an XRCC3 gene polymorphism on oral cancer susceptibility: meta-analysis. DisGeNET Detail
NA DisGeNET Detail
Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the risk of early-onset ... DisGeNET Detail
The results indicate an increased risk of squamous cell carcinoma (SCC) for the homozygous variant g... DisGeNET Detail
Our results suggest XRCC1 Arg399Gln and XRCC3 Thr241Met DNA repair polymorphisms as important biomar... DisGeNET Detail
We retrospectively evaluated the association of SNPs in DNA repair genes, XRCC1-01 (Arg399Gln) and X... DisGeNET Detail
Our results suggest that the XRCC1 Arg399Gln polymorphism may contribute to the risk of early-onset ... DisGeNET Detail
Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the Ontario site of the B... DisGeNET Detail
Our results suggest XRCC1 Arg399Gln and XRCC3 Thr241Met DNA repair polymorphisms as important biomar... DisGeNET Detail
We retrospectively evaluated the association of SNPs in DNA repair genes, XRCC1-01 (Arg399Gln) and X... DisGeNET Detail
The results indicate an increased risk of squamous cell carcinoma (SCC) for the homozygous variant g... DisGeNET Detail
Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the Ontario site of the B... DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
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Analyzing association of the XRCC3 gene polymorphism with ovarian cancer risk. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R399Q and OGG1-S326C), ... DisGeNET Detail
We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in 5 genes involved in ... DisGeNET Detail
Contribution of double strand break repair gene XRCC3 genotypes to nasopharyngeal carcinoma risk in ... DisGeNET Detail
We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in 5 genes involved in ... DisGeNET Detail
NA DisGeNET Detail
Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R399Q and OGG1-S326C), ... DisGeNET Detail
Association between single nucleotide polymorphisms (SNPs) of XRCC2 and XRCC3 homologous recombinati... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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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
rs386493716 dbSNP
Genome
hg38
Position
chr14:103,697,609-103,715,504
Variant Type
snv
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