Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs187043152
rs187043152
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
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 0
dbSNP: rs121908601
rs121908601
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
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2003 2011
dbSNP: rs28374544
rs28374544
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
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs121908603
rs121908603
0.882 0.120 8 105802189 missense variant A/C;G snv 4.9E-04; 4.0E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1448468136
rs1448468136
1.000 0.080 8 105802610 missense variant C/A;T snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014