Disease: Childhood Glioblastoma
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
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
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 44
rs118101777
IDH2
0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 42
rs1444669684
CDKN2B-AS1 ; CDKN2A
0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 35
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv 32
rs121912660
TP53
0.683 0.240 17 7673781 missense variant C/A;G;T snv 26
rs121913503
IDH2
0.689 0.200 15 90088606 missense variant C/A;T snv 23
rs11554137
IDH1
0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02 13
rs2293157
STAT5A
0.763 0.120 17 42300657 intron variant C/A;T snv 9