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
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
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
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
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 27