Disease: Neuroblastoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs4796030
LIG3
0.827 0.120 17 35003131 3 prime UTR variant A/C snv 0.66 6
rs238406
ERCC2
0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 23
rs873601
BIVM-ERCC5 ; ERCC5
0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 25
rs1047768
ERCC5 ; BIVM-ERCC5
0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 20
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs4938723
MIR34C ; BTG4 ; MIR34B ; LOC728196
0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs11134527
MIR218-2 ; SLIT3
0.677 0.400 5 168768351 intron variant G/A snv 0.25 24
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs2094258
ERCC5 ; BIVM-ERCC5
0.701 0.280 13 102844409 intron variant C/T snv 0.18 20
rs11655237
LINC00511 ; LINC00673
0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 17
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
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
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
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
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38