Disease: Neuroblastoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs369576054
ARHGAP24 ; MAPK10
0.807 0.120 4 85994925 missense variant C/T snv 2.8E-05 4.9E-05 6
rs538874513
TP73
0.807 0.120 1 3730017 missense variant C/G;T snv 8.2E-06; 8.2E-06 6
rs4081134
MEG3
0.790 0.160 14 100855451 non coding transcript exon variant G/A snv 0.29 7
rs121917887
NME1-NME2 ; NME1
0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 10
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv 12
rs3136817
APEX1 ; OSGEP
0.732 0.280 14 20456275 intron variant T/C snv 0.23 12
rs34330
CDKN1B ; GPR19
0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70 15
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 19
rs1047768
ERCC5 ; BIVM-ERCC5
0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 20
rs1899663
HOTAIR
0.683 0.280 12 53967210 intron variant C/A snv 0.28 22
rs2298881
ERCC1
0.653 0.400 19 45423658 intron variant C/A;T snv 25
rs873601
BIVM-ERCC5 ; ERCC5
0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 25
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs1760944
OSGEP ; APEX1
0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151