Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv 6
rs387906770
GATA4
1.000 8 11708439 splice acceptor variant C/A;T snv 2
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs12190287
TCF21
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 19
rs146017816
GATA4
1.000 8 11758471 missense variant C/G;T snv 7.2E-05; 1.6E-05 2
rs540578824
GATA4
8 11708800 missense variant C/G;T snv 2.1E-05 1
rs755273705
EVC
4 5729349 missense variant C/G;T snv 2.0E-05 1
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs1532268
MTRR
0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 12
rs1564062144
HNRNPK
1.000 9 83972190 splice acceptor variant C/T snv 7
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
rs1555226315
TBX5
0.925 0.120 12 114398639 stop gained C/T snv 4
rs2228638
NRP1
1.000 0.080 10 33186354 missense variant C/T snv 0.12 9.4E-02 3
rs55633527
GATA4
1.000 0.080 8 11758378 missense variant C/T snv 3.6E-03 3.2E-03 2
rs7207109
HOXB1
1.000 0.080 17 48530455 synonymous variant C/T snv 0.18 0.18 2
rs11665469
NFATC1
18 79454468 intron variant C/T snv 0.30 1
rs2164331
DARS1
2 135910326 intron variant C/T snv 0.18 1
rs6738266
DARS1 ; DARS-AS1
2 135985602 5 prime UTR variant C/T snv 2.8E-02 2.8E-02 1
rs756237060
HAND1
5 154477792 missense variant C/T snv 4.8E-06 1
rs866024579
NKX2-5
5 173232819 missense variant C/T snv 1
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
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