Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1554788393
rs1554788393
ERCC6
0.700 GeneticVariation UNIPROT Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation. 25820262

2015
dbSNP: rs1554788393
rs1554788393
ERCC6
0.700 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs1554788393
rs1554788393
ERCC6
0.700 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999
dbSNP: rs1554788393
rs1554788393
ERCC6
0.700 GeneticVariation UNIPROT Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879

1998