Disease: Neuroblastoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs11655237
LINC00511 ; LINC00673
0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 17
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs775144154
SLC19A1
0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs2298881
ERCC1
0.653 0.400 19 45423658 intron variant C/A;T snv 25
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs3810366
ERCC2
0.732 0.280 19 45370684 5 prime UTR variant G/C;T snv 12
rs238406
ERCC2
0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 23
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs4796030
LIG3
0.827 0.120 17 35003131 3 prime UTR variant A/C snv 0.66 6
rs3811463
LIN28A
0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv 14
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1760944
OSGEP ; APEX1
0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs2839698
MRPL23 ; MIR675 ; H19
0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs11134527
MIR218-2 ; SLIT3
0.677 0.400 5 168768351 intron variant G/A snv 0.25 24