Gene: ERCC8-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs774542633
rs774542633
ERCC8 ; ERCC8-AS1
T 0.700 CausalMutation CLINVAR Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. 29057985

2017
dbSNP: rs1131691783
rs1131691783
ERCC8 ; ERCC8-AS1
CA 0.700 GeneticVariation CLINVAR Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. 26846091

2016
dbSNP: rs774047625
rs774047625
ERCC8 ; ERCC8-AS1
T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs143367518
rs143367518
ERCC8 ; ERCC8-AS1
C 0.700 GeneticVariation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs1404477615
rs1404477615
ERCC8 ; ERCC8-AS1
T 0.700 CausalMutation CLINVAR Cockayne syndrome type A: novel mutations in eight typical patients. 16865293

2006
dbSNP: rs774047625
rs774047625
ERCC8 ; ERCC8-AS1
T 0.700 GeneticVariation CLINVAR Cockayne syndrome type A: novel mutations in eight typical patients. 16865293

2006
dbSNP: rs1554074597
rs1554074597
ERCC8 ; ERCC8-AS1
C 0.700 GeneticVariation CLINVAR