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: rs1554874073
rs1554874073
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease:
De Sanctis-Cacchione syndrome 		T 0.700 GeneticVariation CLINVAR The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. 26620705 2016