Gene: ERCC6 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs875989810
rs875989810
ERCC6
A 0.700 GeneticVariation CLINVAR CSB-PGBD3 Mutations Cause Premature Ovarian Failure. 26218421

2015
dbSNP: rs771781694
rs771781694
ERCC6
A 0.700 GeneticVariation CLINVAR A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome. 25356239

2014
dbSNP: rs121917902
rs121917902
ERCC6 ; PGBD3
A 0.700 CausalMutation CLINVAR Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex. 21143350

2011
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: rs121917902
rs121917902
ERCC6 ; PGBD3
A 0.700 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
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: rs151242354
rs151242354
ERCC6
A 0.700 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs1554787509
rs1554787509
ERCC6
A 0.700 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs1554793270
rs1554793270
ERCC6 ; PGBD3
A 0.700 GeneticVariation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs185142838
rs185142838
ERCC6
A 0.700 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs4253196
rs4253196
ERCC6
C 0.700 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs751448793
rs751448793
ERCC6
A 0.700 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs754978734
rs754978734
ERCC6
C 0.700 GeneticVariation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs766980240
rs766980240
ERCC6
G 0.700 GeneticVariation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs767247987
rs767247987
ERCC6
A 0.700 GeneticVariation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs786205171
rs786205171
ERCC6
A 0.700 GeneticVariation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs121917902
rs121917902
ERCC6 ; PGBD3
A 0.700 CausalMutation CLINVAR CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response. 18784753

2008