Disease: melanoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv 6
rs1057519808
MAP2K2
1.000 0.040 19 4117543 missense variant T/G snv 2
rs137853080
STK11
1.000 0.040 19 1207058 missense variant T/G snv 2
rs2282679
GC
0.645 0.480 4 71742666 intron variant T/G snv 0.21 38
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 34
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 12
rs3803185
ARL11
0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 19
rs1057519702
KIT
1.000 0.040 4 54726020 missense variant T/C snv 2
rs121913513
KIT
0.776 0.120 4 54727495 missense variant T/C snv 10
rs1487774219
CDKN2B ; CDKN2B-AS1
1.000 0.040 9 22008910 missense variant T/C snv 8.1E-06 2
rs1512268
LOC107986930
0.851 0.160 8 23668950 intergenic variant T/C snv 0.50 6
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs4516035
VDR
0.776 0.360 12 47906043 non coding transcript exon variant T/C snv 0.31 10
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs1057519730
MAP2K1
1.000 0.040 15 66436786 missense variant T/A;G snv 2
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 26
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 12
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 37
rs121913240
KRAS
0.672 0.440 12 25227342 missense variant T/A;C;G snv 24