Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs759412116
ERCC2
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs820196
SMIM5 ; RECQL5
0.807 0.160 17 75631459 missense variant T/A;C snv 1.6E-05; 0.26 6
rs5744455
CD14 ; TMCO6
0.882 0.160 5 140633722 upstream gene variant G/A;T snv 5
rs1816158
MIR100HG
0.925 0.200 11 122155752 intron variant C/A;T snv 3
rs4253211
ERCC6
0.882 0.240 10 49470271 missense variant C/G;T snv 7.1E-02; 2.0E-05 3
rs748148861
CCR6
0.925 0.120 6 167136856 missense variant G/C snv 8.0E-06 2
rs865789884
TNFRSF10D
0.925 0.120 8 23145778 missense variant G/A;C snv 4.0E-06 2
rs148704956
IL17A
0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 19
rs28903090
RAD50
0.925 0.120 5 132587981 missense variant G/T snv 1.2E-03 1.4E-03 2
rs115160714
TOPBP1
0.807 0.200 3 133601021 3 prime UTR variant G/A snv 5.8E-03 9
rs34301344
ARL11
0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 22
rs4148323
UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A3 ; UGT1A5 ; UGT1A6 ; UGT1A8 ; UGT1A1 ; UGT1A4
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 22
rs28366003
MT2A
0.763 0.240 16 56608579 upstream gene variant A/C;G snv 4.6E-02 10
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs763780
IL17F
0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 87
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs3742330
DICER1
0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 24