Variant: rs1131691783 

    present in Gene: ERCC8;ERCC8-AS1
    present in Chromosome: 5
    Position on Chromosome: 60918367
    Alleles of this Variant: TCT/CA

rs1131691783 in ERCC8;ERCC8-AS1 gene and Cockayne Syndrome, Type I PMID 26846091 2016 Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.