Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1468231556
rs1468231556
ERCC8
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		TA 0.700 GeneticVariation CLINVAR [Cockayne syndrome: a new mutation in the ERCC8 gene]. 22829088

2012