Variant: rs387906813 

    present in Gene: GATA6
    present in Chromosome: 18
    Position on Chromosome: 22181546
    Alleles of this Variant: A/C;G

rs387906813 in GATA6 gene and CONOTRUNCAL HEART MALFORMATIONS (disorder) PMID 19666519 2009 GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.

rs387906813 in GATA6 gene and HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES PMID 22158542 2011 GATA6 haploinsufficiency causes pancreatic agenesis in humans.