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
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs2296147
BIVM-ERCC5 ; ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 21
rs2298881
ERCC1
0.653 0.400 19 45423658 intron variant C/A;T snv 25
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
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
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 44
rs3212227
IL12B
0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 65
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
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs4938723
MIR34C ; BTG4 ; MIR34B ; LOC728196
0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs531564
LINC00599 ; MIR124-1
0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14 27
rs56307747
ELN ; ELN-AS1
0.776 0.160 7 74059952 missense variant G/A;C snv 4.0E-06 8
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs7958904
HOTAIR
0.724 0.200 12 53963768 non coding transcript exon variant C/A;G snv 15
rs820196
SMIM5 ; RECQL5
0.807 0.160 17 75631459 missense variant T/A;C snv 1.6E-05; 0.26 6
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