Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 45
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 38
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 32
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv 31
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv 25
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 24
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 24
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 23
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 19
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 16
rs12913832
HERC2
0.763 0.200 15 28120472 intron variant A/G snv 0.50 15
rs121913535
KRAS
0.742 0.320 12 25245348 missense variant C/A;G;T snv 14
rs121913294
PTEN
0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 14
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv 9
rs1805006
MC1R
0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 8
rs1085308039
PTEN
0.925 0.080 10 87933075 stop gained G/T snv 6
rs755660650
SLCO6A1
0.827 0.120 5 102498596 missense variant G/C snv 4.0E-06 5
rs10754833
NID1
0.851 0.040 1 236021631 intron variant T/A;C snv 4
rs2284063
PLA2G6
0.851 0.160 22 38148291 non coding transcript exon variant A/G snv 0.40 4
rs12203952 0.882 0.040 6 62856909 intergenic variant G/A;C;T snv 3
rs6754024
CCDC140 ; PAX3
0.882 0.040 2 222297305 intron variant T/G snv 0.85 3
rs3768080
NID1
0.882 0.040 1 236016569 intron variant A/G;T snv 3