Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1404477615
rs1404477615
ERCC8 ; ERCC8-AS1
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		T 0.700 CausalMutation CLINVAR Cockayne syndrome type A: novel mutations in eight typical patients. 16865293

2006