rs786205172, ERCC6

N. diseases: 3
Disease: Cockayne Syndrome, Type II ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cockayne Syndrome, Type II
CUI: C0751038
Disease: Cockayne Syndrome, Type II
0.700 GeneticVariation CLINVAR Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879 1998
Cockayne Syndrome, Type II
CUI: C0751038
Disease: Cockayne Syndrome, Type II
0.700 CausalMutation CLINVAR