Disease: Central neuroblastoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs775144154
SLC19A1
0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
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
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
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
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
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214