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: rs28939668
rs28939668
JAG1
0.807 0.200 20 10652533 missense variant C/T snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.830 1.000 2 2001 2010
dbSNP: rs115099192
rs115099192
GATA4
0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.810 1.000 0 2010 2010
dbSNP: rs28936670
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.810 1.000 0 2008 2008
dbSNP: rs104893905
rs104893905
NKX2-5
0.925 0.080 5 173232898 missense variant G/A snv 4.4E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 1.000 3 1999 2003
dbSNP: rs769531968
rs769531968
JAG1
0.925 0.120 20 10643807 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 1.000 2 2001 2010
dbSNP: rs121434424
rs121434424
GDF1 ; CERS1
1.000 0.080 19 18869231 missense variant C/A;T snv 2.1E-04
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 1.000 1 2007 2007
dbSNP: rs187043152
rs187043152
ZFPM2 ; ZFPM2-AS1
0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 0
dbSNP: rs387906816
rs387906816
GATA6
0.882 0.080 18 22171695 missense variant G/A snv 8.4E-04 1.5E-04
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.720 1.000 2 2010 2014
dbSNP: rs104893902
rs104893902
NKX2-5
0.925 0.080 5 173232888 missense variant G/A snv 7.0E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 1.000 3 1999 2003
dbSNP: rs104893904
rs104893904
NKX2-5
0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 1.000 3 1999 2003
dbSNP: rs121908601
rs121908601
ZFPM2
0.851 0.080 8 105419192 missense variant A/C;G snv 4.0E-06; 2.7E-03
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 1.000 2 2003 2011
dbSNP: rs387906814
rs387906814
GATA6
1.000 0.080 18 22171736 missense variant C/G snv 6.6E-05 6.7E-04
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 1.000 2 2010 2010
dbSNP: rs864622513
rs864622513
GDF1 ; CERS1
1.000 0.080 19 18868791 missense variant A/G snv 1.1E-03 1.1E-04
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 1.000 1 2007 2007
dbSNP: rs201442000
rs201442000
NKX2-5
0.925 0.080 5 173235019 missense variant T/C;G snv 1.3E-04; 4.1E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
dbSNP: rs28374544
rs28374544
ZFPM2 ; ZFPM2-AS1
1.000 0.080 8 105802051 missense variant A/G snv 1.1E-02 4.4E-02
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
dbSNP: rs864321699
rs864321699
GATA4
1.000 0.080 8 11708337 missense variant G/A;C snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0