rs387906813, GATA6

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
10 0.882 0.080 18 22181546 missense variant A/C;G snv 0.800 1.000 1 2011 2011
CONOTRUNCAL HEART MALFORMATIONS (disorder)
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
22 0.882 0.080 18 22181546 missense variant A/C;G snv 0.700 1.000 1 2009 2009
Truncus Arteriosus, Persistent
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
4 0.882 0.080 18 22181546 missense variant A/C;G snv 0.700 0