Disease: Cockayne Syndrome, Type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs774047625
rs774047625
Entrez Id: 1161;105378991
Gene Symbol: ERCC8;ERCC8-AS1
ERCC8;ERCC8-AS1
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs774047625
rs774047625
Entrez Id: 1161;105378991
Gene Symbol: ERCC8;ERCC8-AS1
ERCC8;ERCC8-AS1
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		T 0.700 GeneticVariation CLINVAR Cockayne syndrome type A: novel mutations in eight typical patients. 16865293 2006