rs2228001, XPC

N. diseases: 60
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.100 GeneticVariation BEFREE A meta-analysis was performed to examine the association between XPC Lys939Gln polymorphism and susceptibility to bladder cancer (BC). 23269608 2013
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE A meta-analysis was performed to examine the association between XPC Lys939Gln polymorphism and susceptibility to bladder cancer (BC). 23269608 2013
Malignant neoplasm of urinary bladder
0.100 GeneticVariation BEFREE A meta-analysis was performed to examine the association between XPC Lys939Gln polymorphism and susceptibility to bladder cancer (BC). 23269608 2013
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.090 GeneticVariation BEFREE A meta-analysis was performed to examine the association between XPC Lys939Gln polymorphism and susceptibility to bladder cancer (BC). 23269608 2013
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.090 GeneticVariation BEFREE A significant association between Ala499Val polymorphism and bladder cancer was observed (OR = 1.78, CI = 1.19-2.66, p = 0.005); however, Lys939Gln was unrelated (OR = 0.97, CI = 0.65-1.45, P = 0.89). 27246180 2016
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.100 GeneticVariation BEFREE A total of 7 XPC tagging SNPs (tag-SNPs) were selected from the International HapMap Project Databases (rs2228001A/C, rs2470353G/C, rs2228000C/T, rs3731114C/G, rs3729587G/C, rs2607775C/G and rs3731055G/A) and were genotyped in 205 patients with PC and 230 non-cancer control subjects using a SNaPshot assay. 30344718 2018
Gallbladder adenocarcinoma
CUI: C0279651
Disease: Gallbladder adenocarcinoma
0.010 GeneticVariation BEFREE Ala499Val (C>T) and Lys939Gln (A>C) polymorphisms of the XPC gene: their correlation with the risk of primary gallbladder adenocarcinoma--a case-control study in China. 21113018 2011
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.050 GeneticVariation BEFREE Analyses of the XPC Lys939Gln polymorphism did not show an association with PCa risk. 22682619 2012
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.050 GeneticVariation BEFREE Analyses of the XPC Lys939Gln polymorphism did not show an association with PCa risk. 22682619 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE For Lys939Gln, the CC genotype was associated with a significantly increased risk of CRC (odds ratio (OR)=1.5; 95% confidence interval (CI)=1.0-2.2) compared with the AA genotype. 21104992 2011
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
0.010 GeneticVariation BEFREE Haplotypes A+ and C- (A > C of Lys939Gln, --> + of PAT) were significantly associated with higher susceptibility to cervical cancer (OR = 2.01, p = 0.005 and OR = 1.76, p = 0.002, respectively). 20377134 2010
cervical cancer
CUI: C4048328
Disease: cervical cancer
0.010 GeneticVariation BEFREE Haplotypes A+ and C- (A > C of Lys939Gln, --> + of PAT) were significantly associated with higher susceptibility to cervical cancer (OR = 2.01, p = 0.005 and OR = 1.76, p = 0.002, respectively). 20377134 2010
Malignant tumor of cervix
CUI: C0007847
Disease: Malignant tumor of cervix
0.010 GeneticVariation BEFREE Haplotypes A+ and C- (A > C of Lys939Gln, --> + of PAT) were significantly associated with higher susceptibility to cervical cancer (OR = 2.01, p = 0.005 and OR = 1.76, p = 0.002, respectively). 20377134 2010
Uterine Fibroids
CUI: C0042133
Disease: Uterine Fibroids
0.010 GeneticVariation BEFREE However, no significant association was observed for leiomyoma risk for rs2228001 A > C. This study indicated that genetic variations in XPC gene are associated with leiomyoma susceptibility in a reproductive women population. 31428994 2019
Fibroid Tumor
CUI: C0023267
Disease: Fibroid Tumor
0.010 GeneticVariation BEFREE However, no significant association was observed for leiomyoma risk for rs2228001 A > C. This study indicated that genetic variations in XPC gene are associated with leiomyoma susceptibility in a reproductive women population. 31428994 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE In conclusion, the current data suggested that XPC Lys939Gln and XPG Asp1104His polymorphisms might contribute to the identification of patients with increased risk for CRC. 22213216 2012
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.100 GeneticVariation BEFREE In the second part we selected 2 common single nucleotide polymorphisms within genes involved in NER (Xeroderma pigmentosum group C (XPC) Lys939Gln, Xeroderma pigmentosum group D (XPD) Lys751Gln) to determine the relation between them and CRC risk. 29793654 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE In the second part we selected 2 common single nucleotide polymorphisms within genes involved in NER (Xeroderma pigmentosum group C (XPC) Lys939Gln, Xeroderma pigmentosum group D (XPD) Lys751Gln) to determine the relation between them and CRC risk. 29793654 2018
Xeroderma pigmentosum, group G
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
0.010 GeneticVariation BEFREE In this case-control study of 144 OPL patients and 288 controls, we genotyped 11 polymorphisms in 8 major NER genes, including XPA [A23G at 5' untranslated region (UTR)], XPD (Asp312Asn, Lys751Gln), XPC (Ala499Val, Lys939Gln), XPG (His1104Asp), XPF (Pro662Ser), ERCC6 (Met1097Val, Arg1230Pro) Rad23B (Ala249Val), and CCNH (Val270Ala). 17575242 2007
Xeroderma pigmentosum, group F
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
0.010 GeneticVariation BEFREE In this case-control study of 144 OPL patients and 288 controls, we genotyped 11 polymorphisms in 8 major NER genes, including XPA [A23G at 5' untranslated region (UTR)], XPD (Asp312Asn, Lys751Gln), XPC (Ala499Val, Lys939Gln), XPG (His1104Asp), XPF (Pro662Ser), ERCC6 (Met1097Val, Arg1230Pro) Rad23B (Ala249Val), and CCNH (Val270Ala). 17575242 2007
leukemia
CUI: C0023418
Disease: leukemia
0.010 GeneticVariation BEFREE In this study we aimed to evaluate the associations between XPC Lys939Gln (rs2228001), XPD Lys751Gln (rs13181) and XPG Asp1104His (rs17655) polymorphisms and leukemia risk in a Tunisian population. 25311495 2015
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.010 GeneticVariation BEFREE In this study we aimed to evaluate the associations between XPC Lys939Gln (rs2228001), XPD Lys751Gln (rs13181) and XPG Asp1104His (rs17655) polymorphisms and leukemia risk in a Tunisian population. 25311495 2015
Malignant neoplasm of gallbladder
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
0.010 GeneticVariation BEFREE In this study, we detected two non-synonymous polymorphisms in XPC (Ala499Val and Lys939Gln) in 334 cases of GBC and 329 subjects of hospital-based age- and sex frequency-matched controls in China using a polymerase chain reaction-restriction fragment length polymorphism assay. 21113018 2011
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
0.010 GeneticVariation BEFREE In this study, we detected two non-synonymous polymorphisms in XPC (Ala499Val and Lys939Gln) in 334 cases of GBC and 329 subjects of hospital-based age- and sex frequency-matched controls in China using a polymerase chain reaction-restriction fragment length polymorphism assay. 21113018 2011
Stage 0 Gallbladder Cancer AJCC v8
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE In this study, we detected two non-synonymous polymorphisms in XPC (Ala499Val and Lys939Gln) in 334 cases of GBC and 329 subjects of hospital-based age- and sex frequency-matched controls in China using a polymerase chain reaction-restriction fragment length polymorphism assay. 21113018 2011