Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs864309487
GMNN
0.763 0.280 6 24777279 frameshift variant TCAA/- delins 20
rs1131692034
EDA
0.790 0.160 X 69616488 stop gained C/A snv 14
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv 13
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 13
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins 11
rs1057521737
EP300
0.827 0.240 22 41173768 missense variant T/C snv 11
rs397514641
NF1
0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 11
rs1559193213
SCN1A-AS1 ; SCN1A ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins 11
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv 10
rs864309499
ACO2 ; POLR3H
0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06 9
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins 9
rs375761361
POLR3H ; ACO2
0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05 9
rs758865880
KYNU
0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 8
rs770642379
KYNU
0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05 8
rs1564875331
HBB
0.882 0.120 11 5226724 frameshift variant CATAA/TGATGCC delins 4
rs869312690
SCN8A
0.925 0.240 12 51806762 missense variant A/G snv 3