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
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
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv 31
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 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
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
rs1805006
MC1R
0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 8
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
rs12203952 0.882 0.040 6 62856909 intergenic variant G/A;C;T snv 3
rs397507482
BRAF
0.882 0.040 7 140753386 missense variant A/C 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
rs2855268
PAX3
0.882 0.040 2 222202200 intron variant C/G;T snv 0.11; 2.6E-05 3