Disease: melanoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs16901979
PCAT1 ; CASC19
0.724 0.480 8 127112671 intron variant C/A snv 0.16 17
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs1512268
LOC107986930
0.851 0.160 8 23668950 intergenic variant T/C snv 0.50 6
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs12621278
ITGA6
0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 7
rs12418451
LOC338694 ; LOC105369366
0.882 0.080 11 69167951 intron variant G/A snv 0.22 3
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv 13
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs1138272
GSTP1
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 42
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242