Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376556895
rs376556895
ERCC2
0.810 GeneticVariation BEFREE Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains. 8571952

1996
dbSNP: rs41556519
rs41556519
ERCC2
0.810 GeneticVariation BEFREE Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains. 8571952

1996
dbSNP: rs121913016
rs121913016
ERCC2
0.720 GeneticVariation BEFREE Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains. 8571952

1996
dbSNP: rs121913016
rs121913016
ERCC2
0.720 GeneticVariation BEFREE In cell line GM436 a C-->G transversion was found at nucleotide position 1411 in the XPD (ERCC2) cDNA, a change expected to result in a Leu461Val substitution. 7849702

1994
dbSNP: rs121913019
rs121913019
ERCC2
0.710 GeneticVariation BEFREE We have previously suggested that these differences in clinical manifestations in XP-D patients are attributed partly to a predominant mutation in ERCC2, and the allele frequency of S541R is highest in Japan. 26993158

2016
dbSNP: rs121913026
rs121913026
ERCC2
0.710 GeneticVariation BEFREE Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains. 8571952

1996
dbSNP: rs1360631927
rs1360631927
ERCC2
0.710 GeneticVariation BEFREE Two other cases of severe XP-D/CS (XP group D/CS), XP1JI (p.[G47R];[0]) and XPCS1PV (p.[R666W];[0]), died at ages <2 years. 25716912

2015
dbSNP: rs752510317
rs752510317
ERCC2
0.710 GeneticVariation BEFREE Two other cases of severe XP-D/CS (XP group D/CS), XP1JI (p.[G47R];[0]) and XPCS1PV (p.[R666W];[0]), died at ages <2 years. 25716912

2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE The genotypes of XPD Asp312Asn (p=0.2493), Lys751Gln (p=0.7547) and promoter -114 (p=0.8702), were not associated with susceptibility for colorectal cancer. 27069143

2016
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE These results indicated that neither the Asp312Asn nor Lys751Gln XPD polymorphism was related to NHL risk. 25962431

2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE Significant ESCC risk was observed for XPD Lys751Gln (r</span>s13181</span>) frequency of presence C allele (OR: 1.409, 95% CI: 1.005-1.976) in the three ethnics. 21553048

2012
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE A meta-analysis based on 9 independent case-control studies involving 3165 PCa patients and 3539 healthy controls for XPD Gln751Lys SNP (single nucleotide polymorphism) and 2555 cases and 3182 controls for Asn312Asp SNP was performed to address this association. 23028604

2012
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE In conclusion, our meta-analysis demonstrated that XPD Lys751Gln polymorphism could be a prediction marker for risk of head and neck cancer. 22179996

2011
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null variants of the glutathione S-transferase superfamily (GSTM1 and GSTT1), x-ray repair cross-complementing 1 and 3, and Xeroderma pigmentosum, group D (XRCC1-Arg399Gln, XRCC3-Thr241Met, XPD-Lys751Gln). 15459223

2004
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE No clear association between XPD Asp312Asn or XPD Lys751Gln gene polymorphisms and lung cancer was found. 15615908

2005
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE This is the first study to show that the MnSOD rs4880 and XPD rs13181 polymorphisms may influence the outcome of breast cancer patients receiving adjuvant TAM monotherapy. 24716840

2014
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE We investigated the genetic basis for these findings by analysing the Asp312Asn and Lys751Gln polymorphisms of the XPD (ERCC2) DNA repair gene in the same subjects. 14735199

2004
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE Our analyses demonstrate that XPD rs13181 may be associated with an increase in the risk of lung cancer among Caucasian populations. 24845027

2014
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE We conclude that the polymorphism of XPD Lys751Gln (rs13181) in combination with smoking contributes to increased risk of pancreatic cancer in the Chinese Han population. 29260835

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE Two gene polymorphisms, the MnSOD Val16Ala (rs4880A>G) and the XPD Lys751Gln (rs13181A>C), were analyzed in a cohort of 396 Finnish breast cancer patients by using PCR-RFLP-based methods in a prospective case-control study. 24716840

2014
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cross complementing gene 2, ERCC2) is one of key genes involved in nucleotide excision repair and two potentially functional polymorphisms of XPD (Asp312Asn and Lys751Gln) have been widely investigated in various cancers including prostate cancer. 23771356

2014
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE The correlation between ERCC1 polymorphisms (rs11615 and rs3212986) and XPD polymorphisms (rs13181 and rs1799793) with the response rate and overall survival of cancer patients who accept neoadjuvant therapy has been extensively investigated.However, the results are inconclusive. 26426637

2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE Numerous epidemiological studies have been conducted to investigate the association between Xeroderma pigmentosum complementation group D (XPD) Asp312Asn (rs1799793 G > A) and Lys751Gln (rs13181 A > C) polymorphisms and bladder cancer risk; however, the conclusions remain controversial. 24347488

2014
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE A statistically significant finding could be seen in noncardia-type gastric cancer for XPD Lys751Gln polymorphism. 23028453

2012
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE Our results suggest that the XPD Lys751Gln variant genotype increases the risk of CML. 24955348

2014