rs281875222, ERCC8

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cockayne Syndrome, Type I
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
Cockayne Syndrome, Type I
CUI: C0751039
Disease: Cockayne Syndrome, Type I
0.700 GeneticVariation UNIPROT Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. 15744458 2005
Cockayne Syndrome, Type I
CUI: C0751039
Disease: Cockayne Syndrome, Type I
0.700 GeneticVariation UNIPROT CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. 14661080 2004