Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434324
rs121434324
ERCC8 ; NDUFAF2
A 0.710 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs121434324
rs121434324
ERCC8 ; NDUFAF2
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