Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs3793784
rs3793784
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0242383
Disease:
Age related macular degeneration
0.020 GeneticVariation BEFREE A recent study (Tuo et al., PNAS) reported an association between AMD and a single nucleotide polymorphism (SNP) (rs3793784) in the ERCC6 (NM_000124) gene. 21072178 2010
dbSNP: rs4253197
rs4253197
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0001948
Disease:
Alcohol consumption
A 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs2228526
rs2228526
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0005695
Disease:
Bladder Neoplasm
0.020 GeneticVariation BEFREE In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A, ERCC6 M1097V and RAD23B A249V in ever smokers: smokers with the variant alleles at these three loci had an almost 30-fold increased risk of bladder cancer [odds ratio (OR): 29.6, 95% confidence interval (CI): 9.3-93.7]. 17728339 2007
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: 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: 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: C0699885
Disease:
Carcinoma of bladder
0.020 GeneticVariation BEFREE In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A, ERCC6 M1097V and RAD23B A249V in ever smokers: smokers with the variant alleles at these three loci had an almost 30-fold increased risk of bladder cancer [odds ratio (OR): 29.6, 95% confidence interval (CI): 9.3-93.7]. 17728339 2007
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: rs121917901
rs121917901
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0684249
Disease:
Carcinoma of lung
A 0.700 CausalMutation CLINVAR
dbSNP: rs121917902
rs121917902
Entrez Id: 2074;267004
Gene Symbol: ERCC6;PGBD3
ERCC6;PGBD3
CUI: C0684249
Disease:
Carcinoma of lung
A 0.700 CausalMutation CLINVAR
dbSNP: rs373227647
rs373227647
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0684249
Disease:
Carcinoma of lung
C 0.700 CausalMutation CLINVAR
dbSNP: rs376526037
rs376526037
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0684249
Disease:
Carcinoma of lung
A 0.700 CausalMutation CLINVAR
dbSNP: rs12571445
rs12571445
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: rs2228526
rs2228526
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: rs3793784
rs3793784
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: 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: rs2228527
rs2228527
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C4721806
Disease:
Carcinoma, Basal Cell
0.010 GeneticVariation BEFREE These associations were confined to basal cell carcinoma (BCC) of the skin (rs2228529, OR 1.78, 95% CI 1.30-2.44; rs2228527, OR 1.78, 95% CI 1.31-2.43). 22336945 2012
dbSNP: rs2228529
rs2228529
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C4721806
Disease:
Carcinoma, Basal Cell
0.010 GeneticVariation BEFREE These associations were confined to basal cell carcinoma (BCC) of the skin (rs2228529, OR 1.78, 95% CI 1.30-2.44; rs2228527, OR 1.78, 95% CI 1.31-2.43). 22336945 2012
dbSNP: rs121917905
rs121917905
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1
0.800 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs121917905
rs121917905
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1
G 0.800 CausalMutation CLINVAR
dbSNP: rs1198241866
rs1198241866
Entrez Id: 2074;267004
Gene Symbol: ERCC6;PGBD3
ERCC6;PGBD3
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1
A 0.700 GeneticVariation CLINVAR Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells. 11809892 2002
dbSNP: rs1198241866
rs1198241866
Entrez Id: 2074;267004
Gene Symbol: ERCC6;PGBD3
ERCC6;PGBD3
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1
A 0.700 GeneticVariation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs1198472093
rs1198472093
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1198472093
rs1198472093
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1
T 0.700 GeneticVariation CLINVAR