Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12334811
rs12334811
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0007137
Disease:
Squamous cell carcinoma
0.010 GeneticVariation BEFREE In general, the "good" genotype GG (rs12334811) showed greater efficacy of radio-chemotherapy and MSF (24 months) on SCC. 27246533 2016
dbSNP: rs2305952
rs2305952
Entrez Id: 4173;5591
Gene Symbol: MCM4;PRKDC
MCM4;PRKDC
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The HCC risk was lower in patients with the MCM4 rs2305952 CC (OR = 0.22, 95%CI: 0.08-0.63, P = 0.01) and with the CHEK1 rs515255 TC, TT, TC/TT (OR = 0.73, 95%CI: 0.56-0.96, P = 0.02; OR = 0.67, 95%CI: 0.46-0.97, P = 0.04; OR = 0.72, 95%CI: 0.56-0.92, P = 0.01, respectively). 27350734 2016
dbSNP: rs7003908
rs7003908
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE A significantly different distribution was found in the frequency of PRKDC (rs7003908) genotype between the ESCC group and controls. 26166223 2016
dbSNP: rs7003908
rs7003908
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0017638
Disease:
Glioma
0.010 GeneticVariation BEFREE These results suggest that IL-10 rs1800871 and PRKDC rs7003908 may be useful biomarkers for predicting glioma patient outcome. 27811370 2016
dbSNP: rs8178085
rs8178085
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0007137
Disease:
Squamous cell carcinoma
0.010 GeneticVariation BEFREE In squamous cell carcinoma (SCC), as the rs2228000, rs2228001 (XPC), rs2273953 (TP73), rs2279744 (MDM2), rs2299939 (PTEN) and rs8178085, rs12334811 (DNA-PKcs) affected the sensitivity to chemotherapy, so did the rs8178085, rs12334811 to radiotherapy. 27246533 2016
dbSNP: rs1372047743
rs1372047743
Entrez Id: 4173;5591
Gene Symbol: MCM4;PRKDC
MCM4;PRKDC
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE ATR is an attractive target in cancer therapy because it signals replication stress and DNA lesions for repair and to S/G2 checkpoints. 26486089 2015
dbSNP: rs1372047743
rs1372047743
Entrez Id: 4173;5591
Gene Symbol: MCM4;PRKDC
MCM4;PRKDC
CUI: C0008626
Disease:
Congenital chromosomal disease
0.010 GeneticVariation BEFREE The mutagenic effects of phospho-Ku70 are documented by a defective S/G2 checkpoint, accelerated disappearance of γ-H2AX foci and kinetics of DNA repair resulting in an increased level of genotoxic stress-induced chromosomal aberrations. 26337656 2015
dbSNP: rs1372047743
rs1372047743
Entrez Id: 4173;5591
Gene Symbol: MCM4;PRKDC
MCM4;PRKDC
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE ATR is an attractive target in cancer therapy because it signals replication stress and DNA lesions for repair and to S/G2 checkpoints. 26486089 2015
dbSNP: rs7003908
rs7003908
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE The GG and GT genotypes of XRCC7 rs7003908 compared to the TT genotype had a protective effect on lung cancer risk in Taiwan, particularly among males and smokers. 25503126 2014
dbSNP: rs7003908
rs7003908
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE The GG and GT genotypes of XRCC7 rs7003908 compared to the TT genotype had a protective effect on lung cancer risk in Taiwan, particularly among males and smokers. 25503126 2014
dbSNP: rs7003908
rs7003908
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE The GG and GT genotypes of XRCC7 rs7003908 compared to the TT genotype had a protective effect on lung cancer risk in Taiwan, particularly among males and smokers. 25503126 2014
dbSNP: rs10109984
rs10109984
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE The results showed that no significant associations with cancer risk were found in any model in terms of rs7003908, rs7830743 and rs10109984 when all studies were pooled into the meta-analysis. 23108991 2013
dbSNP: rs10109984
rs10109984
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The results showed that no significant associations with cancer risk were found in any model in terms of rs7003908, rs7830743 and rs10109984 when all studies were pooled into the meta-analysis. 23108991 2013
dbSNP: rs7003908
rs7003908
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE This meta-analysis suggests that XRCC7 rs7003908 polymorphism may contribute to cancer susceptibility for prostate cancer, which is recommended to be included in future large-sample studies and functional assays. 23108991 2013
dbSNP: rs7003908
rs7003908
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE This meta-analysis suggests that XRCC7 rs7003908 polymorphism may contribute to cancer susceptibility for prostate cancer, which is recommended to be included in future large-sample studies and functional assays. 23108991 2013
dbSNP: rs7003908
rs7003908
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0023531
Disease:
Leukoplakia
0.010 GeneticVariation BEFREE Two SNPs (rs12360870 of MRE11A, P-value: 2.37E-07 and rs7003908 of PRKDC, P-value: 7.99E-05) were found to be significantly associated only with leukoplakia. 23437280 2013
dbSNP: rs7830743
rs7830743
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE The results showed that no significant associations with cancer risk were found in any model in terms of rs7003908, rs7830743 and rs10109984 when all studies were pooled into the meta-analysis. 23108991 2013
dbSNP: rs7830743
rs7830743
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The results showed that no significant associations with cancer risk were found in any model in terms of rs7003908, rs7830743 and rs10109984 when all studies were pooled into the meta-analysis. 23108991 2013
dbSNP: rs937475913
rs937475913
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.010 GeneticVariation BEFREE We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the maintenance of genetic stability (MMR: MLH1-93G>A; BER: XRCC1--77T>C and Arg399Gln; NER:XPC Lys939Gln and PAT +/-; DSBR:ATM G5557A and XRCC7 G6721T) in 302 incident bladder cancer cases and 311 hospital controls. 22927776 2012
dbSNP: rs937475913
rs937475913
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0005695
Disease:
Bladder Neoplasm
0.010 GeneticVariation BEFREE We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the maintenance of genetic stability (MMR: MLH1-93G>A; BER: XRCC1--77T>C and Arg399Gln; NER:XPC Lys939Gln and PAT +/-; DSBR:ATM G5557A and XRCC7 G6721T) in 302 incident bladder cancer cases and 311 hospital controls. 22927776 2012
dbSNP: rs937475913
rs937475913
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0699885
Disease:
Carcinoma of bladder
0.010 GeneticVariation BEFREE We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the maintenance of genetic stability (MMR: MLH1-93G>A; BER: XRCC1--77T>C and Arg399Gln; NER:XPC Lys939Gln and PAT +/-; DSBR:ATM G5557A and XRCC7 G6721T) in 302 incident bladder cancer cases and 311 hospital controls. 22927776 2012
dbSNP: rs7003908
rs7003908
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0699885
Disease:
Carcinoma of bladder
0.010 GeneticVariation BEFREE We undertook a case-control study of 212 urothelial bladder cancer (UBC) cases and 250 controls to investigate the association between OGG1 (C1245G rs1052133), XRCC3 (C18067T, rs861539) and XRCC7 (G6721T, rs7003908) polymorphisms and bladder cancer susceptibility by PCR-RFLP and the ARMS method. 19815090 2010
dbSNP: rs7003908
rs7003908
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.010 GeneticVariation BEFREE We undertook a case-control study of 212 urothelial bladder cancer (UBC) cases and 250 controls to investigate the association between OGG1 (C1245G rs1052133), XRCC3 (C18067T, rs861539) and XRCC7 (G6721T, rs7003908) polymorphisms and bladder cancer susceptibility by PCR-RFLP and the ARMS method. 19815090 2010
dbSNP: rs7003908
rs7003908
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C0005695
Disease:
Bladder Neoplasm
0.010 GeneticVariation BEFREE We undertook a case-control study of 212 urothelial bladder cancer (UBC) cases and 250 controls to investigate the association between OGG1 (C1245G rs1052133), XRCC3 (C18067T, rs861539) and XRCC7 (G6721T, rs7003908) polymorphisms and bladder cancer susceptibility by PCR-RFLP and the ARMS method. 19815090 2010
dbSNP: rs587777685
rs587777685
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C1865370
Disease:
Severe combined immunodeficiency with sensitivity to ionizing radiation
0.010 GeneticVariation BEFREE Here we have identified the first human RS-SCID patient to our knowledge with a DNA-PKcs missense mutation (L3062R). 19075392 2009