Disease: Childhood Glioblastoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs374524467
PITX2
0.827 0.040 4 110632961 missense variant A/C snv 8.0E-06 7.0E-06 5
rs865880036
MEIS2
0.827 0.040 15 37098156 missense variant A/C snv 1.3E-04 5
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
0.701 0.360 20 63678486 intron variant A/C;G snv 21
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs1373481065
GADD45A
0.827 0.040 1 67687668 missense variant A/G snv 4.0E-06 6
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 58
rs2234248
LOC105375056 ; TREM2
0.827 0.040 6 41163980 upstream gene variant A/G snv 2.2E-03 5
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs498872
PHLDB1
0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 10
rs1057519903
H3-3A
0.683 0.080 1 226064434 missense variant A/T snv 28
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs3092993
ATM ; C11orf65
0.827 0.040 11 108364388 intron variant C/A snv 0.11 5
rs753152604
CDK4
0.827 0.040 12 57751680 missense variant C/A snv 7
rs121912660
TP53
0.683 0.240 17 7673781 missense variant C/A;G;T snv 26
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 40
rs1444669684
CDKN2B-AS1 ; CDKN2A
0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs2235544
DIO1
0.742 0.240 1 53909897 intron variant C/A;T snv 0.53; 4.0E-06 14
rs2293157
STAT5A
0.763 0.120 17 42300657 intron variant C/A;T snv 9
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs1800925
IL13 ; TH2LCRR
0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 37
rs833061
VEGFA
0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42