Disease: Cerebrooculofacioskeletal Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917905
rs121917905
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1 		0.800 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs121917905
rs121917905
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1 		G 0.800 CausalMutation CLINVAR