Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434325
rs121434325
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.800 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs281875221
rs281875221
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C3553298
Disease:
UV-SENSITIVE SYNDROME 2 		0.800 GeneticVariation UNIPROT A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. 19329487 2009
dbSNP: rs121434325
rs121434325
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.800 GeneticVariation UNIPROT Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. 15744458 2005
dbSNP: rs121434325
rs121434325
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.800 GeneticVariation UNIPROT CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. 14661080 2004
dbSNP: rs121434325
rs121434325
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		A 0.800 CausalMutation CLINVAR
dbSNP: rs281875221
rs281875221
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C3553298
Disease:
UV-SENSITIVE SYNDROME 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121434324
rs121434324
Entrez Id: 1161;91942
Gene Symbol: ERCC8;NDUFAF2
ERCC8;NDUFAF2
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		A 0.710 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs121434326
rs121434326
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.710 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs121434326
rs121434326
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.710 GeneticVariation UNIPROT Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. 15744458 2005
dbSNP: rs121434324
rs121434324
Entrez Id: 1161;91942
Gene Symbol: ERCC8;NDUFAF2
ERCC8;NDUFAF2
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.710 GeneticVariation BEFREE We found that a subject with Cockayne syndrome type A was a compound heterozygote for two new mutations in CKN1 (MIM 216400): a missense mutation (A205P) and a nonsense (E13X) mutation. 14661080 2004
dbSNP: rs121434326
rs121434326
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.710 GeneticVariation UNIPROT We found that a subject with Cockayne syndrome type A was a compound heterozygote for two new mutations in CKN1 (MIM 216400): a missense mutation (A205P) and a nonsense (E13X) mutation. 14661080 2004
dbSNP: rs121434326
rs121434326
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.710 GeneticVariation BEFREE We found that a subject with Cockayne syndrome type A was a compound heterozygote for two new mutations in CKN1 (MIM 216400): a missense mutation (A205P) and a nonsense (E13X) mutation. 14661080 2004
dbSNP: rs774542633
rs774542633
Entrez Id: 1161;105378991
Gene Symbol: ERCC8;ERCC8-AS1
ERCC8;ERCC8-AS1
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		T 0.700 CausalMutation CLINVAR Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. 29057985 2017
dbSNP: rs1131691783
rs1131691783
Entrez Id: 1161;105378991
Gene Symbol: ERCC8;ERCC8-AS1
ERCC8;ERCC8-AS1
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		CA 0.700 GeneticVariation CLINVAR Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. 26846091 2016
dbSNP: rs201464610
rs201464610
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		T 0.700 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
dbSNP: rs185572712
rs185572712
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0036341
Disease:
Schizophrenia 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
dbSNP: rs774047625
rs774047625
Entrez Id: 1161;105378991
Gene Symbol: ERCC8;ERCC8-AS1
ERCC8;ERCC8-AS1
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs1468231556
rs1468231556
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		TA 0.700 GeneticVariation CLINVAR [Cockayne syndrome: a new mutation in the ERCC8 gene]. 22829088 2012
dbSNP: rs143367518
rs143367518
Entrez Id: 1161;105378991
Gene Symbol: ERCC8;ERCC8-AS1
ERCC8;ERCC8-AS1
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		C 0.700 GeneticVariation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs1554073316
rs1554073316
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		T 0.700 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs1554076309
rs1554076309
Entrez Id: 1161;91942
Gene Symbol: ERCC8;NDUFAF2
ERCC8;NDUFAF2
CUI: C4748768
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		A 0.700 CausalMutation CLINVAR Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. 20571988 2010
dbSNP: rs281875222
rs281875222
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.700 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs281875223
rs281875223
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.700 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs281875224
rs281875224
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.700 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs281875225
rs281875225
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.700 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010