Disease: Neoplasms
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
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 73
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
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs11466445
TGFBR1
0.851 0.160 9 99105256 inframe insertion GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG delins 5
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913479
FGFR3
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 10
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 31
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
rs17881656
FGFR3
0.925 0.240 4 1804404 missense variant T/A;C snv 8.0E-06; 3.3E-03 3
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1800371
TP53
0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 15
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
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
rs2234922
EPHX1
0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs2306283
SLCO1B1
0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 16