Variant: rs1057519594

present in Gene: SETBP1 present in Chromosome: 18 Position on Chromosome: 44951356 Alleles of this Variant: -/T

rs1057519594 in SETBP1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.