Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12203952 0.882 0.040 6 62856909 intergenic variant G/A;C;T snv 3
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
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 24
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
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 27
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 23
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 13
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 6
rs11275300
DTL
0.925 0.040 1 212104247 3 prime UTR variant C/G snv 2
rs1554927408
FGFR2
0.742 0.480 10 121515254 missense variant C/T snv 12
rs1384270958
FGFR2
1.000 0.040 10 121500883 missense variant C/G snv 4.0E-06 1
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv 21
rs12913832
HERC2
0.763 0.200 15 28120472 intron variant A/G snv 0.50 15
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 38
rs121913535
KRAS
0.742 0.320 12 25245348 missense variant C/A;G;T snv 14
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs1805006
MC1R
0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 8
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 32
rs10754833
NID1
0.851 0.040 1 236021631 intron variant T/A;C snv 4
rs3768080
NID1
0.882 0.040 1 236016569 intron variant A/G;T snv 3
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv 31