Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 33
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 25
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv 18
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 18
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 16
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 16
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
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
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 13
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 13
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 11
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 10
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10
rs1554846212
DUPD1 ; KAT6B
0.851 0.160 10 75030037 missense variant C/T snv 9