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 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: rs202080674
rs202080674
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
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 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 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
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: 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: rs368728467
rs368728467
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 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: rs751292948
rs751292948
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 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
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: rs751292948
rs751292948
ERCC6
0.800 GeneticVariation UNIPROT Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation. 25820262

2015
dbSNP: rs1198241866
rs1198241866
ERCC6 ; PGBD3
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
ERCC6 ; PGBD3
A 0.700 GeneticVariation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs1198472093
rs1198472093
ERCC6
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1198472093
rs1198472093
ERCC6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1228919836
rs1228919836
ERCC6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1254008304
rs1254008304
ERCC6 ; PGBD3
TGG 0.700 GeneticVariation CLINVAR

dbSNP: rs1287286877
rs1287286877
ERCC6
TTC 0.700 GeneticVariation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs1317145066
rs1317145066
ERCC6
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1362935450
rs1362935450
ERCC6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1386369933
rs1386369933
ERCC6
TG 0.700 GeneticVariation CLINVAR