Disease: Central neuroblastoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs874945 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 14
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1052536
LIG3
0.776 0.200 17 35004556 3 prime UTR variant C/T snv 0.42 0.36 10
rs3811463
LIN28A
0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv 14
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs8173
AURKA
0.763 0.240 20 56369735 3 prime UTR variant C/G;T snv 9
rs873601
BIVM-ERCC5 ; ERCC5
0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 25
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
rs34330
CDKN1B ; GPR19
0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70 15
rs3810366
ERCC2
0.732 0.280 19 45370684 5 prime UTR variant G/C;T snv 12
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
rs238406
ERCC2
0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 23
rs915927
XRCC1
0.827 0.120 19 43553075 synonymous variant T/A;C;G snv 0.37 5
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
rs2839698
MRPL23 ; MIR675 ; H19
0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045485
CASP8
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs1048108
SNHG31 ; BARD1
0.827 0.120 2 214809500 missense variant G/A snv 0.38 0.33 5
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147