Variant: rs1057516042 

    present in Gene: TBX5
    present in Chromosome: 12
    Position on Chromosome: 114403794
    Alleles of this Variant: G/-

rs1057516042 in TBX5 gene and Aplasia/Hypoplasia of the thumb PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516042 in TBX5 gene and Holt-Oram syndrome PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.