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
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 34
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
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs1214285376
XRCC1
0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06 8
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs121912654
TP53
0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 21
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
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
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs1800624
PBX2 ; AGER
0.658 0.480 6 32184610 upstream gene variant A/G;T snv 33
rs1801270
CDKN1A
0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 22
rs20417
PACERR ; PTGS2
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs2107425
MRPL23 ; H19
0.732 0.280 11 1999845 intron variant C/T snv 16
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
rs2233678
PIN1 ; LOC100996288
0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv 14