Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs45513495
DAND5
1.000 0.040 19 12973519 missense variant G/A snv 1.1E-02 1.1E-02 2
rs147860174
GATA4
8 11750261 intron variant G/A snv 5.3E-03 5.4E-03 1
rs1554498708
GATA4
8 11756909 non coding transcript exon variant G/A snv 1
rs3729851
GATA4
8 11755333 intron variant G/A snv 9.3E-02 1
rs1982073
TGFB1
0.649 0.640 19 41353016 missense variant G/A;C snv 32
rs864321650
NKX2-5
5 173234902 missense variant G/A;C snv 3
rs372187772
PRODH ; DGCR6
1.000 0.080 22 18913477 stop gained G/A;C snv 9.8E-06; 4.9E-06 2
rs864321699
GATA4
1.000 0.080 8 11708337 missense variant G/A;C snv 2
rs10503425
GATA4
8 11748855 intron variant G/A;C snv 1
rs804290
GATA4 ; C8orf49
8 11759327 3 prime UTR variant G/A;C snv 1
rs387906776
NKX2-5
1.000 0.080 5 173232775 missense variant G/A;C;T snv 4.2E-06; 8.4E-06 3
rs113049875
GATA4
8 11755236 intron variant G/A;C;T snv 1
rs546772104
CITED2
6 139373448 missense variant G/A;T snv 5.0E-06; 5.0E-06 1
rs751426149
MIR208A ; MYH6
14 23389617 stop gained G/A;T snv 4.0E-06; 4.0E-06 1
rs864321649
NKX2-5
5 173233101 missense variant G/A;T snv 1
rs56166237
GATA4
0.882 0.120 8 11708411 missense variant G/T snv 3.6E-03 2.0E-03 4
rs368418329
GATA4
0.925 0.120 8 11708019 5 prime UTR variant G/T snv 5.9E-03 3
rs864321702
GATA4
8 11748984 missense variant T/A snv 1
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs2277923
NKX2-5
0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 13
rs1904589
NODAL
1.000 0.040 10 70435683 missense variant T/C snv 0.62 0.56 2
rs1554498312
GATA4
8 11754991 intron variant T/C snv 1
rs3735819
GATA4
8 11748803 intron variant T/C snv 0.80 1
rs549543886
C8orf49 ; GATA4
8 11759643 3 prime UTR variant T/C snv 2.2E-03 1
rs121965033
IDUA
0.925 0.120 4 1002333 missense variant T/C;G snv 4.0E-06 3