Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 28
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 18
rs727503109
KRAS
0.752 0.320 12 25245277 missense variant T/C snv 17
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins 16
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv 12
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12