Disease: Childhood Neuroblastoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
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
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53