Variant: rs1057516047 

    present in Gene: STPG4;TTC7A
    present in Chromosome: 2
    Position on Chromosome: 47073816
    Alleles of this Variant: C/T

rs1057516047 in STPG4;TTC7A gene and Congenital atresia of pulmonary valve PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516047 in STPG4;TTC7A gene and Intestinal Atresia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516047 in STPG4;TTC7A gene and Multiple gastrointestinal atresias (disorder) PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516047 in STPG4;TTC7A gene and Ventricular Septal Defects PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.