Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201464610
rs201464610
ERCC8
T 0.700 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399

2016
dbSNP: rs201464610
rs201464610
ERCC8
T 0.700 CausalMutation CLINVAR Cockayne syndrome type A: novel mutations in eight typical patients. 16865293

2006