Disease: melanoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv 14
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 35
rs4950928
CHI3L1
0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 33
rs7023329
MTAP
0.790 0.160 9 21816529 intron variant A/G snv 0.50 9
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs886040456
BRCA2
0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins 6
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 27
rs118203998
PALB2
0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 11
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs563378859
TP53
0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05 8
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 34
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 12
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs777980327
APC
0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 21
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54