Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs804280
GATA4
0.882 0.120 8 11755189 intron variant C/A;G snv 6
rs10465885
LOC102723321 ; GJA5
0.882 0.080 1 147760632 intron variant T/A;C snv 4
rs2289263
SMAD3
0.925 0.120 15 67146869 intron variant T/G snv 0.43 3
rs177415
PSEN1
1.000 0.040 14 73211255 intron variant T/C;G snv 2
rs11067075
TBX5
12 114361761 intron variant C/A snv 1.2E-03 1
rs11665469
NFATC1
18 79454468 intron variant C/T snv 0.30 1
rs2164331
DARS1
2 135910326 intron variant C/T snv 0.18 1
rs309143
DARS1
2 135956608 intron variant A/G snv 0.19 1
rs754505
NFATC1 ; LOC101927897
18 79466368 intron variant G/A snv 5.6E-02 1
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 16
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs587777710
GATA6
0.807 0.160 18 22171856 stop gained G/T snv 8
rs1057516047
STPG4 ; TTC7A
0.882 0.120 2 47073816 stop gained C/T snv 4
rs1555226315
TBX5
0.925 0.120 12 114398639 stop gained C/T snv 4
rs1555223259
TBX5
1.000 0.080 12 114355868 stop gained G/C snv 3
rs771150933
MESP1
1.000 0.080 15 89750880 stop gained G/A snv 2
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1801394
FASTKD3 ; MTRR
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14