Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs875989810
rs875989810
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome 		A 0.700 GeneticVariation CLINVAR Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. 27186691 2017
dbSNP: rs875989810
rs875989810
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1 		A 0.700 GeneticVariation CLINVAR Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. 27186691 2017
dbSNP: rs875989810
rs875989810
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II 		A 0.700 GeneticVariation CLINVAR Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. 27186691 2017
dbSNP: rs121917904
rs121917904
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome 		A 0.700 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
dbSNP: rs151242354
rs151242354
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome 		A 0.700 GeneticVariation CLINVAR Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 27356891 2016
dbSNP: rs1554794342
rs1554794342
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. 26749132 2016
dbSNP: rs1554794342
rs1554794342
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. 26204423 2016
dbSNP: rs1554794342
rs1554794342
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. 26749132 2016
dbSNP: rs1554794342
rs1554794342
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. 26204423 2016
dbSNP: rs1554874073
rs1554874073
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome 		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: rs1554874073
rs1554874073
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II 		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: rs1554874073
rs1554874073
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1 		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
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. 26749132 2016
dbSNP: rs185142838
rs185142838
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. 26204423 2016
dbSNP: rs185142838
rs185142838
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. 26749132 2016
dbSNP: rs185142838
rs185142838
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome 		A 0.700 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
dbSNP: rs185142838
rs185142838
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. 26204423 2016
dbSNP: rs185142838
rs185142838
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1 		A 0.700 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
dbSNP: rs185142838
rs185142838
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease:
Cockayne Syndrome, Type II 		A 0.700 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
dbSNP: rs202080674
rs202080674
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. 26204423 2016
dbSNP: rs202080674
rs202080674
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. 26749132 2016
dbSNP: rs376526037
rs376526037
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. 26749132 2016
dbSNP: rs376526037
rs376526037
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. 26204423 2016
dbSNP: rs762976316
rs762976316
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome 		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: rs762976316
rs762976316
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1 		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