Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894073
rs104894073
GATA4
8 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.800 1.000 7 2003 2016
dbSNP: rs104894074
rs104894074
GATA4
2 0.925 0.120 8 11708467 missense variant C/T snv 0.800 1.000 7 2003 2016
dbSNP: rs387906772
rs387906772
GATA4
3 1.000 0.080 8 11755064 missense variant A/G;T snv 0.800 1.000 7 2003 2016
dbSNP: rs56298569
rs56298569
GATA4
1 1.000 0.080 8 11755082 stop gained C/G;T snv 0.800 1.000 7 2003 2016
dbSNP: rs387906771
rs387906771
GATA4
2 1.000 0.080 8 11750166 missense variant C/G;T snv 0.700 1.000 7 2003 2016
dbSNP: rs56191129
rs56191129
GATA4
1 1.000 0.080 8 11708590 missense variant G/A;C snv 3.1E-05 0.700 1.000 7 2003 2016
dbSNP: rs777778466
rs777778466
GATA4
1 1.000 0.080 8 11758353 missense variant C/A;T snv 2.4E-05 0.700 1.000 7 2003 2016
dbSNP: rs1282433424
rs1282433424
GATA4
2 0.925 0.080 8 11755094 missense variant C/T snv 0.700 0
dbSNP: rs56208331
rs56208331
GATA4
4 0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03 0.700 0