Disease: melanoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1024708183
MAP2K7
0.925 0.040 19 7909761 missense variant A/G snv 4
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 12
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519702
KIT
1.000 0.040 4 54726020 missense variant T/C snv 2
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs1057519730
MAP2K1
1.000 0.040 15 66436786 missense variant T/A;G snv 2
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv 7
rs1057519804
AKT1
1.000 0.040 14 104776711 missense variant G/T snv 2
rs1057519808
MAP2K2
1.000 0.040 19 4117543 missense variant T/G snv 2
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs1057519837
CTNNB1
1.000 0.040 3 41224631 missense variant C/G;T snv 2
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv 6
rs1057519855
HRAS ; LRRC56
0.776 0.120 11 533873 missense variant CT/AC;TC mnv 11
rs1057519860
EGFR
0.851 0.080 7 55160316 missense variant C/A snv 5
rs1057519874
RAC1
0.807 0.120 7 6387261 missense variant C/A;T snv 9
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv 26
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 27
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54