Disease: De Sanctis-Cacchione syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917901
rs121917901
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome 		A 0.700 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010