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
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
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs886039469
KCNMA1-AS1 ; KCNMA1
0.701 0.560 10 76891709 missense variant T/C snv 35
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv 30
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 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
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs1131692034
EDA
0.790 0.160 X 69616488 stop gained C/A snv 14