Disease: Central neuroblastoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1048108
SNHG31 ; BARD1
0.827 0.120 2 214809500 missense variant G/A snv 0.38 0.33 5
rs915927
XRCC1
0.827 0.120 19 43553075 synonymous variant T/A;C;G snv 0.37 5
rs8173
AURKA
0.763 0.240 20 56369735 3 prime UTR variant C/G;T snv 9
rs1052536
LIG3
0.776 0.200 17 35004556 3 prime UTR variant C/T snv 0.42 0.36 10
rs3136817
APEX1 ; OSGEP
0.732 0.280 14 20456275 intron variant T/C snv 0.23 12
rs3810366
ERCC2
0.732 0.280 19 45370684 5 prime UTR variant G/C;T snv 12
rs3811463
LIN28A
0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv 14
rs874945 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 14
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
rs2094258
ERCC5 ; BIVM-ERCC5
0.701 0.280 13 102844409 intron variant C/T snv 0.18 20
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs1899663
HOTAIR
0.683 0.280 12 53967210 intron variant C/A snv 0.28 22
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 23
rs238406
ERCC2
0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 23
rs11134527
MIR218-2 ; SLIT3
0.677 0.400 5 168768351 intron variant G/A snv 0.25 24
rs2298881
ERCC1
0.653 0.400 19 45423658 intron variant C/A;T snv 25
rs2839698
MRPL23 ; MIR675 ; H19
0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 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
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33
rs1045485
CASP8
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34