Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202080674
rs202080674
ERCC6
0.800 GeneticVariation UNIPROT ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice. 29203878

2017
dbSNP: rs368728467
rs368728467
ERCC6
0.800 GeneticVariation UNIPROT ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice. 29203878

2017
dbSNP: rs751292948
rs751292948
ERCC6
0.800 GeneticVariation UNIPROT ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice. 29203878

2017
dbSNP: rs202080674
rs202080674
ERCC6
0.800 GeneticVariation UNIPROT Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation. 25820262

2015
dbSNP: rs368728467
rs368728467
ERCC6
0.800 GeneticVariation UNIPROT Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation. 25820262

2015
dbSNP: rs751292948
rs751292948
ERCC6
0.800 GeneticVariation UNIPROT Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation. 25820262

2015
dbSNP: rs202080674
rs202080674
ERCC6
0.800 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs368728467
rs368728467
ERCC6
0.800 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs751292948
rs751292948
ERCC6
0.800 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs202080674
rs202080674
ERCC6
0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999
dbSNP: rs368728467
rs368728467
ERCC6
0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999
dbSNP: rs751292948
rs751292948
ERCC6
0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999
dbSNP: rs202080674
rs202080674
ERCC6
0.800 GeneticVariation UNIPROT Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879

1998
dbSNP: rs368728467
rs368728467
ERCC6
0.800 GeneticVariation UNIPROT Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879

1998
dbSNP: rs751292948
rs751292948
ERCC6
0.800 GeneticVariation UNIPROT Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879

1998
dbSNP: rs202080674
rs202080674
ERCC6
A 0.800 CausalMutation CLINVAR

dbSNP: rs368728467
rs368728467
ERCC6
G 0.800 CausalMutation CLINVAR

dbSNP: rs368728467
rs368728467
ERCC6
T 0.800 CausalMutation CLINVAR

dbSNP: rs751292948
rs751292948
ERCC6
T 0.800 CausalMutation CLINVAR

dbSNP: rs1554788393
rs1554788393
ERCC6
0.700 GeneticVariation UNIPROT ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice. 29203878

2017
dbSNP: rs875989810
rs875989810
ERCC6
A 0.700 GeneticVariation CLINVAR Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. 27186691

2017
dbSNP: rs1554874073
rs1554874073
ERCC6
T 0.700 GeneticVariation CLINVAR The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. 26620705

2016
dbSNP: rs185142838
rs185142838
ERCC6
A 0.700 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399

2016
dbSNP: rs762976316
rs762976316
ERCC6
A 0.700 GeneticVariation CLINVAR The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. 26620705

2016
dbSNP: rs1554788393
rs1554788393
ERCC6
0.700 GeneticVariation UNIPROT Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation. 25820262

2015