Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 13
rs137854550
NF1
0.790 0.360 17 31258500 missense variant A/C;G snv 10
rs387906666
CBL
0.827 0.080 11 119278182 missense variant A/C;G snv 5
rs121918546
ARHGAP26
1.000 0.080 5 143041855 missense variant A/C;G snv 4.3E-06; 4.3E-06 1
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv 12
rs121918465
PTPN11
0.827 0.200 12 112450407 missense variant A/C;G;T snv 7
rs397507505
PTPN11
0.827 0.240 12 112450352 missense variant A/C;G;T snv 5
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
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
rs727504426
CBL
0.882 0.320 11 119278508 splice acceptor variant A/G snv 3
rs267606602
NF1
0.925 0.160 17 31221842 splice region variant A/G snv 2
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs772295894
NF1
0.807 0.280 17 31338739 stop gained C/A;G snv 4.0E-06 7
rs397507506
PTPN11
0.807 0.240 12 112450354 missense variant C/A;G snv 6
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs121434596
NRAS
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 26
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 19