Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 24
rs2151280
CDKN2B-AS1
0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 16
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv 16
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs886041347
NF1
0.790 0.320 17 31229061 stop gained C/T snv 13
rs397514641
NF1
0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 11
rs137854550
NF1
0.790 0.360 17 31258500 missense variant A/C;G snv 10
rs587779333
PMS2 ; AIMP2
0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 10
rs917411291
GZMM
0.851 0.360 19 544072 start lost A/C;G snv 9
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins 9
rs587778967
EPM2AIP1 ; MLH1
0.925 0.200 3 36993548 start lost A/C;G snv 8
rs267607911
MSH2
0.851 0.200 2 47403192 start lost A/C;G;T snv 5.1E-05; 1.4E-05 8
rs917570055
GZMM
0.882 0.360 19 547342 start lost A/G snv 7
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv 7
rs1057519370
NF1
0.882 0.120 17 31159091 splice donor variant G/- delins 7
rs137854552
NF1
0.807 0.280 17 31334927 stop gained C/T snv 7
rs772295894
NF1
0.807 0.280 17 31338739 stop gained C/A;G snv 4.0E-06 7
rs786202112
NF1
0.827 0.280 17 31327839 missense variant G/A snv 7
rs863224493
NF1
0.925 0.120 17 31352281 stop gained G/A snv 7
rs866445127
NF1
0.851 0.240 17 31352348 stop gained C/T snv 7
rs868408509
LAMA2
0.827 0.160 6 128883315 missense variant C/G;T snv 4.6E-06 6
rs63751615
MLH1
0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 6