Disease: melanoma
Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 35
rs1870377
KDR
0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20 25
rs2066844
NOD2
0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 49
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 135
rs1800566
NQO1
0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 103
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs8192284
IL6R
0.724 0.720 1 154454494 missense variant A/C;T snv 17
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 98
rs361525
TNF
0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 62
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 61