rs201464610, ERCC8

N. diseases: 1
Disease: Cockayne Syndrome, Type I ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cockayne Syndrome, Type I
CUI: C0751039
Disease: Cockayne Syndrome, Type I
0.700 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
Cockayne Syndrome, Type I
CUI: C0751039
Disease: Cockayne Syndrome, Type I
0.700 CausalMutation CLINVAR Cockayne syndrome type A: novel mutations in eight typical patients. 16865293 2006