Variant: rs1293161341 

    present in Gene: CHD1
    present in Chromosome: 5
    Position on Chromosome: 98856390
    Alleles of this Variant: C/T

rs1293161341 in CHD1 gene and PILAROWSKI-BJORNSSON SYNDROME PMID 28866611 2018 Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.