Gene: ERCC6 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1554875114
rs1554875114
ERCC6
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554875154
rs1554875154
ERCC6
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs1554875155
rs1554875155
ERCC6
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554875287
rs1554875287
ERCC6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554875522
rs1554875522
ERCC6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs371739894
rs371739894
ERCC6
A 0.700 GeneticVariation CLINVAR Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 29572252

2018
dbSNP: rs376526037
rs376526037
ERCC6
A 0.700 GeneticVariation CLINVAR Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family. 28440418

2017
dbSNP: rs577021605
rs577021605
ERCC6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs751838040
rs751838040
ERCC6
A 0.700 GeneticVariation 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: 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: rs765825423
rs765825423
ERCC6
C 0.700 GeneticVariation CLINVAR

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: rs768608345
rs768608345
ERCC6
C 0.700 GeneticVariation CLINVAR

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: rs774791374
rs774791374
ERCC6
CG 0.700 GeneticVariation CLINVAR

dbSNP: rs786205170
rs786205170
ERCC6
GT 0.700 GeneticVariation CLINVAR

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: rs786205172
rs786205172
ERCC6
TTAAGGTGGACCTTAAGCAGCCAGCCC 0.700 GeneticVariation CLINVAR Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879

1998
dbSNP: rs875989810
rs875989810
ERCC6
A 0.700 GeneticVariation CLINVAR CSB-PGBD3 Mutations Cause Premature Ovarian Failure. 26218421

2015
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: rs906755254
rs906755254
ERCC6
A 0.700 GeneticVariation CLINVAR Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879

1998
dbSNP: rs121917901
rs121917901
ERCC6
A 0.700 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010