Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906813
rs387906813
GATA6
0.882 0.080 18 22181546 missense variant A/C;G snv
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.800 1.000 1 2011 2011
dbSNP: rs387906813
rs387906813
GATA6
0.882 0.080 18 22181546 missense variant A/C;G snv
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 1.000 1 2009 2009