Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202080674
rs202080674
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice. 29203878 2017
dbSNP: rs368728467
rs368728467
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice. 29203878 2017
dbSNP: rs751292948
rs751292948
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice. 29203878 2017
dbSNP: rs202080674
rs202080674
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation. 25820262 2015
dbSNP: rs368728467
rs368728467
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation. 25820262 2015
dbSNP: rs751292948
rs751292948
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation. 25820262 2015
dbSNP: rs121917905
rs121917905
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1
0.800 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs202080674
rs202080674
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs368728467
rs368728467
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs751292948
rs751292948
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs202080674
rs202080674
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs368728467
rs368728467
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs751292948
rs751292948
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs202080674
rs202080674
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
dbSNP: rs368728467
rs368728467
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
dbSNP: rs751292948
rs751292948
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.800 GeneticVariation UNIPROT Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
dbSNP: rs121917905
rs121917905
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1
G 0.800 CausalMutation CLINVAR
dbSNP: rs202080674
rs202080674
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
A 0.800 CausalMutation CLINVAR
dbSNP: rs368728467
rs368728467
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
G 0.800 CausalMutation CLINVAR
dbSNP: rs368728467
rs368728467
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
T 0.800 CausalMutation CLINVAR
dbSNP: rs751292948
rs751292948
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
T 0.800 CausalMutation CLINVAR
dbSNP: rs371739894
rs371739894
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome
A 0.700 GeneticVariation CLINVAR Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 29572252 2018
dbSNP: rs4253197
rs4253197
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0001948
Disease:
Alcohol consumption
A 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs1554788393
rs1554788393
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II
0.700 GeneticVariation UNIPROT ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice. 29203878 2017
dbSNP: rs376526037
rs376526037
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome
A 0.700 GeneticVariation CLINVAR Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family. 28440418 2017