Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4253160
rs4253160
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE However, the combined variant genotypes of the four loci with P(trend) approaching to 0.10 (rs2228526, rs4253160, rs12571445 and rs3793784) were associated with a significantly increased lung cancer risk (adjusted OR 1.35, 95% CI, 1.04-1.75 among subjects carrying three or more variant alleles), indicating that multiple loci in ERCC6 may jointly contribute to the susceptibility of lung cancer. 18789574 2009
dbSNP: rs4253160
rs4253160
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE However, the combined variant genotypes of the four loci with P(trend) approaching to 0.10 (rs2228526, rs4253160, rs12571445 and rs3793784) were associated with a significantly increased lung cancer risk (adjusted OR 1.35, 95% CI, 1.04-1.75 among subjects carrying three or more variant alleles), indicating that multiple loci in ERCC6 may jointly contribute to the susceptibility of lung cancer. 18789574 2009
dbSNP: rs4253160
rs4253160
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE However, the combined variant genotypes of the four loci with P(trend) approaching to 0.10 (rs2228526, rs4253160, rs12571445 and rs3793784) were associated with a significantly increased lung cancer risk (adjusted OR 1.35, 95% CI, 1.04-1.75 among subjects carrying three or more variant alleles), indicating that multiple loci in ERCC6 may jointly contribute to the susceptibility of lung cancer. 18789574 2009
dbSNP: rs4253211
rs4253211
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0595989
Disease:
Carcinoma of larynx
0.010 GeneticVariation BEFREE Pro-carriers of ERCC6 Arg1230Pro showed a decreased risk for laryngeal cancer (OR = 0.53, 95% CI 0.34-0.85), strongest in heavy smokers and high alcohol consumers. 19444904 2009
dbSNP: rs4253211
rs4253211
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0007107
Disease:
Malignant neoplasm of larynx
0.010 GeneticVariation BEFREE Pro-carriers of ERCC6 Arg1230Pro showed a decreased risk for laryngeal cancer (OR = 0.53, 95% CI 0.34-0.85), strongest in heavy smokers and high alcohol consumers. 19444904 2009
dbSNP: rs2228526
rs2228526
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526. 18767034 2008
dbSNP: rs2228526
rs2228526
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526. 18767034 2008
dbSNP: rs3793784
rs3793784
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE The biological function and cancer susceptibility of a common variant rs3793784:C>G (c.-6530C>G) in the ERCC6 was examined. 17854076 2008
dbSNP: rs3793784
rs3793784
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The biological function and cancer susceptibility of a common variant rs3793784:C>G (c.-6530C>G) in the ERCC6 was examined. 17854076 2008
dbSNP: rs143305574
rs143305574
Entrez Id: 2074;267004
Gene Symbol: ERCC6;PGBD3
ERCC6;PGBD3
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
dbSNP: rs143305574
rs143305574
Entrez Id: 2074;267004
Gene Symbol: ERCC6;PGBD3
ERCC6;PGBD3
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
dbSNP: rs4253211
rs4253211
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
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
dbSNP: rs1554788393
rs1554788393
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1
0.010 GeneticVariation BEFREE Here we report the first involvement of the XPD gene in a new case of UV-sensitive COFS syndrome, with heterozygous substitutions-a R616W null mutation (previously seen in patients in XP complementation group D) and a unique D681N mutation-demonstrating that a third gene can be involved in COFS syndrome. 11443545 2001
dbSNP: rs1554788393
rs1554788393
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0043346
Disease:
Xeroderma Pigmentosum
0.010 GeneticVariation BEFREE Here we report the first involvement of the XPD gene in a new case of UV-sensitive COFS syndrome, with heterozygous substitutions-a R616W null mutation (previously seen in patients in XP complementation group D) and a unique D681N mutation-demonstrating that a third gene can be involved in COFS syndrome. 11443545 2001
dbSNP: rs3793784
rs3793784
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0242383
Disease:
Age related macular degeneration
0.020 GeneticVariation BEFREE The haplotypes constructed of rs3793784-rs11200638 were found to be associated with AMD development, as well. 31583032 2019
dbSNP: rs2228526
rs2228526
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0699885
Disease:
Carcinoma of bladder
0.020 GeneticVariation BEFREE Regarding the Met1097Val polymorphism, no significant association with bladder cancer risk was found in any of the genetic models evaluated (Val vs. Met: OR = 1.10, 95% CI, 0.97-1.25; Val/Val vs. Met/Met: OR = 1.23, 95% CI, 0.86-1.75; Val/Val + Val/Met vs. Met/Met: OR = 1.12, 95% CI, 0.96-1.30; Val/Val vs. Met/Met + Val/Met: OR = 0.81, 95% CI, 0.57-1.14). 27791261 2017
dbSNP: rs2228526
rs2228526
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0005695
Disease:
Bladder Neoplasm
0.020 GeneticVariation BEFREE Regarding the Met1097Val polymorphism, no significant association with bladder cancer risk was found in any of the genetic models evaluated (Val vs. Met: OR = 1.10, 95% CI, 0.97-1.25; Val/Val vs. Met/Met: OR = 1.23, 95% CI, 0.86-1.75; Val/Val + Val/Met vs. Met/Met: OR = 1.12, 95% CI, 0.96-1.30; Val/Val vs. Met/Met + Val/Met: OR = 0.81, 95% CI, 0.57-1.14). 27791261 2017
dbSNP: rs2228526
rs2228526
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.020 GeneticVariation BEFREE Regarding the Met1097Val polymorphism, no significant association with bladder cancer risk was found in any of the genetic models evaluated (Val vs. Met: OR = 1.10, 95% CI, 0.97-1.25; Val/Val vs. Met/Met: OR = 1.23, 95% CI, 0.86-1.75; Val/Val + Val/Met vs. Met/Met: OR = 1.12, 95% CI, 0.96-1.30; Val/Val vs. Met/Met + Val/Met: OR = 0.81, 95% CI, 0.57-1.14). 27791261 2017
dbSNP: rs2228527
rs2228527
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0699893
Disease:
Skin carcinoma
0.020 GeneticVariation BEFREE We found that the G allele of rs2228527 and the G allele of rs2228529 within <i>NER</i> gene, interaction between rs2228529 and current smoking were all associated with increased NMSC risk. 29113361 2017
dbSNP: rs2228529
rs2228529
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0699893
Disease:
Skin carcinoma
0.020 GeneticVariation BEFREE We found that the G allele of rs2228527 and the G allele of rs2228529 within <i>NER</i> gene, interaction between rs2228529 and current smoking were all associated with increased NMSC risk. 29113361 2017
dbSNP: rs2228526
rs2228526
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE In conclusion, we found that polymorphisms in XPG rs2296147 and CSB rs2228526 were significantly associated with prostate cancer susceptibility in the Chinese population analyzed. 24615090 2014
dbSNP: rs2228526
rs2228526
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0600139
Disease:
Prostate carcinoma
0.020 GeneticVariation BEFREE In conclusion, we found that polymorphisms in XPG rs2296147 and CSB rs2228526 were significantly associated with prostate cancer susceptibility in the Chinese population analyzed. 24615090 2014
dbSNP: rs2228526
rs2228526
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0600139
Disease:
Prostate carcinoma
0.020 GeneticVariation BEFREE Our study indicates that XPG rs2296147 and CSB rs2228526 polymorphisms are significantly associated with increased risk of prostate cancer, and that combination of XPG rs2296147 T allele and CSB rs2228526 G allele is strongly associated with an increased risk. 24289586 2013
dbSNP: rs2228526
rs2228526
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE Our study indicates that XPG rs2296147 and CSB rs2228526 polymorphisms are significantly associated with increased risk of prostate cancer, and that combination of XPG rs2296147 T allele and CSB rs2228526 G allele is strongly associated with an increased risk. 24289586 2013
dbSNP: rs2228527
rs2228527
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0699893
Disease:
Skin carcinoma
0.020 GeneticVariation BEFREE Using the additive model, two tightly linked functional SNPs in ERCC6 were significantly associated with increased risk of NMSC: rs2228527 (odds ratio (OR) 1.57, 95% confidence interval (CI) 1.20-2.05) and rs2228529 (OR 1.57, 95% CI 1.20-2.05). 22336945 2012