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: rs2228528
rs2228528
Entrez Id: 2074;267004
Gene Symbol: ERCC6;PGBD3
ERCC6;PGBD3
CUI: C0014175
Disease:
Endometriosis 		0.010 GeneticVariation BEFREE The multivariate logistic regression analysis showed that subjects carrying the ERCC1 rs11615 TT (OR = 2.04, 95% CI = 1.36-3.41), ERCC2 rs1799793 AA (OR = 1.86, 95% CI = 1.14-3.11), and ERCC6 rs2228528 AA genotypes (OR = 1.79, 95% CI = 1.13-2.83) exhibited significantly increased risks of developing endometriosis compared with their counterparts carrying the wild-type genotypes. 31373346 2019
dbSNP: rs2228526
rs2228526
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		0.010 GeneticVariation BEFREE In the screening cohort, 6 candidate SNPs were associated with the tendency to develop MDS: rs4135113 (TDG, p = 0.03), rs12917 (MGMT, p = 0.003), rs2230641 (CCNH, p = 0.01), rs2228529 and rs2228526 (ERCC6, p = 0.04 and p = 0.03), and rs1799977 (MLH1, p = 0.04). 30861523 2019
dbSNP: rs2228529
rs2228529
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		0.010 GeneticVariation BEFREE In the screening cohort, 6 candidate SNPs were associated with the tendency to develop MDS: rs4135113 (TDG, p = 0.03), rs12917 (MGMT, p = 0.003), rs2230641 (CCNH, p = 0.01), rs2228529 and rs2228526 (ERCC6, p = 0.04 and p = 0.03), and rs1799977 (MLH1, p = 0.04). 30861523 2019
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: rs371739894
rs371739894
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome 		A 0.700 GeneticVariation CLINVAR Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 29572252 2018
dbSNP: rs202080674
rs202080674
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II 		0.800 GeneticVariation UNIPROT ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice. 29203878 2017
dbSNP: rs368728467
rs368728467
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II 		0.800 GeneticVariation UNIPROT ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice. 29203878 2017
dbSNP: rs751292948
rs751292948
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II 		0.800 GeneticVariation UNIPROT ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice. 29203878 2017
dbSNP: rs1554788393
rs1554788393
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II 		0.700 GeneticVariation UNIPROT ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice. 29203878 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: rs376526037
rs376526037
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome 		A 0.700 GeneticVariation CLINVAR Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family. 28440418 2017
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: rs151242354
rs151242354
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome 		A 0.700 GeneticVariation CLINVAR Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 27356891 2016
dbSNP: rs875989810
rs875989810
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome 		A 0.700 GeneticVariation CLINVAR Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. 27186691 2017
dbSNP: rs875989810
rs875989810
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1 		A 0.700 GeneticVariation CLINVAR Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. 27186691 2017
dbSNP: rs875989810
rs875989810
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II 		A 0.700 GeneticVariation CLINVAR Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. 27186691 2017
dbSNP: rs121917904
rs121917904
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome 		A 0.700 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
dbSNP: rs185142838
rs185142838
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome 		A 0.700 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
dbSNP: rs185142838
rs185142838
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1 		A 0.700 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
dbSNP: rs185142838
rs185142838
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II 		A 0.700 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
dbSNP: rs1554794342
rs1554794342
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. 26749132 2016