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
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 41
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 38
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
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
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 27
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
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv 21
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
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 13
rs1554927408
FGFR2
0.742 0.480 10 121515254 missense variant C/T snv 12
rs1805006
MC1R
0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 8
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 6
rs1085308047
PTEN ; KLLN
0.827 0.160 10 87864509 missense variant A/G snv 6
rs755660650
SLCO6A1
0.827 0.120 5 102498596 missense variant G/C snv 4.0E-06 5