Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 26
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 18
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 18
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
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
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16