Disease: Childhood Osteosarcoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
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
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs4938723
MIR34C ; BTG4 ; MIR34B ; LOC728196
0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs531564
LINC00599 ; MIR124-1
0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14 27
rs2296147
BIVM-ERCC5 ; ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 21
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60 13
rs7023329
MTAP
0.790 0.160 9 21816529 intron variant A/G snv 0.50 9