Disease: Childhood Osteosarcoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 44
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 44
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
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 34
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33
rs145204276
ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 27
rs531564
LINC00599 ; MIR124-1
0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14 27
rs1760944
OSGEP ; APEX1
0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs2298881
ERCC1
0.653 0.400 19 45423658 intron variant C/A;T snv 25
rs2296147
BIVM-ERCC5 ; ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 21
rs1047768
ERCC5 ; BIVM-ERCC5
0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 20
rs12190287
TCF21
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 19
rs1800372
TP53
0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 15
rs7958904
HOTAIR
0.724 0.200 12 53963768 non coding transcript exon variant C/A;G snv 15
rs56307747
ELN ; ELN-AS1
0.776 0.160 7 74059952 missense variant G/A;C snv 4.0E-06 8
rs820196
SMIM5 ; RECQL5
0.807 0.160 17 75631459 missense variant T/A;C snv 1.6E-05; 0.26 6