Disease: Liver carcinoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1057317
TLR4
0.827 0.160 9 117715764 3 prime UTR variant C/A snv 5
rs10719
DROSHA
0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 24
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1143633
IL1B
0.752 0.280 2 112832890 intron variant C/G;T snv 11
rs12108497
PRIMPOL ; CASP3
0.851 0.080 4 184650403 intron variant C/G;T snv 6
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs148611340
XRCC1
0.790 0.120 19 43543621 missense variant G/A;C snv 4.0E-06; 1.2E-05 7
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1870134
XPC ; LSM3
0.827 0.120 3 14178523 missense variant G/C;T snv 4.2E-02; 8.1E-06 5
rs20417
PACERR ; PTGS2
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs2292832
MIR149 ; GPC1 ; LOC100130449
0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs2298881
ERCC1
0.653 0.400 19 45423658 intron variant C/A;T snv 25
rs2303428
MSH2
0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12 9
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
rs2839698
MRPL23 ; MIR675 ; H19
0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs3212986
CD3EAP ; ERCC1
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42