Gene: ERCC6 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376526037
rs376526037
ERCC6
A 0.700 CausalMutation CLINVAR Cockayne syndrome: the expanding clinical and mutational spectrum. 23428416

2013
dbSNP: rs376526037
rs376526037
ERCC6
A 0.700 CausalMutation CLINVAR Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. 10767341

2000
dbSNP: rs376526037
rs376526037
ERCC6
A 0.700 CausalMutation CLINVAR The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. 26204423

2016