Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs63750070
MSH2
0.882 0.160 2 47410245 missense variant T/C;G snv 3
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs4938723
MIR34C ; BTG4 ; MIR34B ; LOC728196
0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs2043556
PRKG1 ; MIR605
0.716 0.440 10 51299646 non coding transcript exon variant T/C snv 0.25 0.24 17
rs17868323
UGT1A7 ; UGT1A10 ; UGT1A9 ; UGT1A8
0.925 0.160 2 233682324 missense variant T/A;G snv 0.59 2
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs2292832
MIR149 ; GPC1 ; LOC100130449
0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs63750447
MLH1
0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 17
rs6983267
PCAT1 ; CCAT2 ; CASC8 ; POU5F1B
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs11479
SCO2 ; TYMP
0.925 0.080 22 50525807 stop gained G/A;C;T snv 0.13; 1.3E-05; 4.3E-06 2
rs1131341
NQO1
0.925 0.160 16 69714966 missense variant G/A;C snv 3.2E-02 2.6E-02 4
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs2275913
IL17A
0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 105
rs1800566
NQO1
0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs11549467
HIF1A ; HIF1A-AS3
0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 30
rs2839698
MRPL23 ; MIR675 ; H19
0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs4751240
DOCK1
0.882 0.120 10 127338145 intron variant G/A snv 9.0E-02 3
rs41526344
CNTN4
0.925 0.120 3 2943458 intron variant G/A snv 7.5E-02 2
rs63751067
MSH2
1.000 0.080 2 47410244 frameshift variant CTAGGACTGTGT/A delins 1
rs386656364
UGT1A10 ; UGT1A8 ; UGT1A9 ; UGT1A7
0.807 0.160 2 233682328 missense variant CG/AA mnv 8
rs879625015
UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A8
0.807 0.160 2 233682328 frameshift variant CG/A delins 8
rs771314938
UGT1A9 ; UGT1A10 ; UGT1A8 ; UGT1A7
0.807 0.160 2 233682328 frameshift variant CG/- del 8