Variant: rs1050860620 

    present in Gene: LRRC14;RECQL4
    present in Chromosome: 8
    Position on Chromosome: 144515987
    Alleles of this Variant: C/A;G;T

rs1050860620 in LRRC14;RECQL4 gene and Baller-Gerold syndrome PMID 12734318 2003 Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

PMID 12952869 2003 Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.