Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 27
rs12190287
TCF21
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 19
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 14
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins 9
rs104894073
GATA4
0.827 0.080 8 11750213 missense variant G/A;C;T snv 8
rs587777710
GATA6
0.807 0.160 18 22171856 stop gained G/T snv 8
rs1554643168
PUF60
0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 7
rs1564062144
HNRNPK
1.000 9 83972190 splice acceptor variant C/T snv 7
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv 6
rs804280
GATA4
0.882 0.120 8 11755189 intron variant C/A;G snv 6
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv 5
rs10465885
LOC102723321 ; GJA5
0.882 0.080 1 147760632 intron variant T/A;C snv 4
rs1057516047
STPG4 ; TTC7A
0.882 0.120 2 47073816 stop gained C/T snv 4
rs1114167294
FOXP4
0.925 6 41587455 frameshift variant T/- del 4