Source: UNIPROT

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

2010