Variant: rs1054186954 

    present in Gene: RECQL4
    present in Chromosome: 8
    Position on Chromosome: 144513012
    Alleles of this Variant: G/A;T

rs1054186954 in RECQL4 gene and Baller-Gerold syndrome PMID 24635570 2015 Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.