rs387906818, 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.
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
31 0.882 0.120 18 22181516 missense variant C/T snv 0.710 1.000 1 2014 2014
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
10 0.882 0.120 18 22181516 missense variant C/T snv 0.800 1.000 1 2011 2011
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
83 0.882 0.120 18 22181516 missense variant C/T snv 0.710 1.000 1 2014 2014