Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906813
rs387906813
GATA6
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. 19666519

2009