Disease: melanoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv 13
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs12621278
ITGA6
0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 7
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1982151
RMI1
0.807 0.120 9 84002350 missense variant A/G;T snv 0.73 9
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs16901979
PCAT1 ; CASC19
0.724 0.480 8 127112671 intron variant C/A snv 0.16 17
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 56
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs1138272
GSTP1
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 42
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs6465657
LMTK2
0.807 0.280 7 98187015 intron variant C/T snv 0.41 0.37 7
rs12418451
LOC338694 ; LOC105369366
0.882 0.080 11 69167951 intron variant G/A snv 0.22 3
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1800566
NQO1
0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169