Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1043679457
rs1043679457
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0007758
Disease:
Cerebellar Ataxia
G 0.700 CausalMutation CLINVAR