| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. | 19894250 | 2010 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex. | 21143350 | 2011 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response. | 18784753 | 2008 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. | 19894250 | 2010 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. | 19894250 | 2010 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. | 19894250 | 2010 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. | 27004399 | 2016 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
CT | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. | 19894250 | 2010 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. | 19894250 | 2010 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
GA | 0.700 | CausalMutation | CLINVAR | ||||||
|
AC | 0.700 | CausalMutation | CLINVAR |