Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11263498 1.000 0.040 11 69567999 TF binding site variant T/C snv 0.51 1
rs1156242341
PAX3
1.000 0.040 2 222202072 missense variant T/C snv 7.0E-06 1
rs121913363
BRAF
1.000 0.040 7 140753361 missense variant T/C snv 1
rs121913524
KIT
1.000 0.040 4 54733182 missense variant T/C snv 1
rs1281363680
ATR
1.000 0.040 3 142566228 missense variant T/C snv 7.0E-06 1
rs1341866 1.000 0.040 9 21771242 regulatory region variant T/C snv 0.34 1
rs17119461
LINC02627
1.000 0.040 10 105756594 intergenic variant T/C snv 7.7E-02 1
rs17305657
BPIFA3
1.000 0.040 20 33218782 intron variant T/C snv 5.2E-02 1
rs1800522
AIRE
1.000 0.040 21 44297667 synonymous variant T/C snv 1
rs3219090
PARP1
1.000 0.040 1 226376990 intron variant T/C snv 0.58 1
rs3219125
PARP1
1.000 0.040 1 226367250 non coding transcript exon variant T/C snv 5.0E-02 1
rs35414
SLC45A2
1.000 0.040 5 33969523 intron variant T/C snv 0.45 1
rs4698934
TET2 ; TET2-AS1
1.000 0.040 4 105218230 intron variant T/C snv 0.12 1
rs748523570
IL18
1.000 0.040 11 112150119 missense variant T/C snv 4.0E-06 1
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 26
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 12
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv 10
rs267601394
EZH2
0.807 0.200 7 148811635 missense variant T/A;G snv 8
rs1057519708
KIT
1.000 0.040 4 54728096 missense variant T/A;G snv 2
rs1057519730
MAP2K1
1.000 0.040 15 66436786 missense variant T/A;G snv 2
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 37
rs121913240
KRAS
0.672 0.440 12 25227342 missense variant T/A;C;G snv 24
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 24