Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs10465885
LOC102723321 ; GJA5
0.882 0.080 1 147760632 intron variant T/A;C snv 4
rs104894073
GATA4
0.827 0.080 8 11750213 missense variant G/A;C;T snv 8
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv 5
rs1057516047
STPG4 ; TTC7A
0.882 0.120 2 47073816 stop gained C/T snv 4
rs1057518868
FOXF1 ; FENDRR
0.925 0.080 16 86510849 missense variant A/T snv 3
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs11067075
TBX5
12 114361761 intron variant C/A snv 1.2E-03 1
rs1114167294
FOXP4
0.925 6 41587455 frameshift variant T/- del 4
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv 6
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs11665469
NFATC1
18 79454468 intron variant C/T snv 0.30 1
rs1185861796
GATA4
1.000 0.080 8 11758339 missense variant C/A snv 8.0E-06 7.0E-06 2
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs12190287
TCF21
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 19
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 14
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 27
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1357911800
SALL4
20 51790094 missense variant T/A snv 1
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs1383180
CRMP1 ; EVC
4 5783715 missense variant G/A;T snv 0.35; 2.4E-05 1
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24