Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
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
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs1554642022
PUF60 ; SCRIB
0.851 0.200 8 143816981 stop gained G/A snv 8
rs201217593
DMD
0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 8
rs863224880
IGHMBP2
0.925 0.160 11 68906074 stop gained G/A snv 7
rs1060499549
ZNF462
0.882 0.120 9 106927699 stop gained C/T snv 4
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 41
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
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
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 18