Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1131692034
EDA
0.790 0.160 X 69616488 stop gained C/A snv 14
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11
rs1135402759
ZEB2
1.000 0.280 2 144389932 missense variant T/C snv 4
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 13
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv 7
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv 30
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins 10
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins 9
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 12
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 12
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs376754460
PMM2
0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 12
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv 9