Disease: Central neuroblastoma
Source: BEFREE ×
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
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 484
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
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 213
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 40
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
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 21
rs121917887
NME1-NME2 ; NME1
0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 10
rs653765
ADAM10
0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45 10
rs514049
ADAM10
0.827 0.160 15 58750164 intron variant C/A snv 0.57 6