Disease: Childhood Osteosarcoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800896
IL19 ; IL10
0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs2298881
ERCC1
0.653 0.400 19 45423658 intron variant C/A;T snv 25
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs3212986
CD3EAP ; ERCC1
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60 13
rs568408
IL12A ; IL12A-AS1
0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 29
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs7025417
LOC107987046 ; IL33
0.752 0.280 9 6240084 intron variant T/C;G snv 11
rs747126003
IL6-AS1 ; IL6
0.689 0.400 7 22728790 missense variant A/G;T snv 4.0E-06 18
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs9895829
TP53
0.807 0.080 17 7675361 5 prime UTR variant A/G snv 7.4E-02 6