rs371739894, ERCC6

N. diseases: 2
Disease: De Sanctis-Cacchione syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
De Sanctis-Cacchione syndrome
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
0.700 GeneticVariation CLINVAR Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 29572252 2018