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
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
rs1800896
IL19 ; IL10
0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs1800871
IL19 ; IL10
0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 108
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47