Disease: Neoplasms
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs3783553
IL1A
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv 12
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 29
rs1566734
PTPRJ
0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 10
rs2231292
BCL2L10
1.000 0.040 15 52112665 missense variant A/C snv 0.41 0.48 3
rs627928
RNASEL
0.790 0.080 1 182582202 missense variant A/C snv 0.54 0.49 10
rs735482
CD3EAP ; ERCC1
0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 16
rs1057520001
TP53
0.677 0.360 17 7674886 missense variant A/C;G snv 23
rs11249433
EMBP1
0.827 0.160 1 121538815 intron variant A/C;G snv 9
rs140516819
EGFR
7 55172999 missense variant A/C;G snv 4.0E-05 2.4E-04 4
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs2069837
IL6-AS1 ; IL6
0.724 0.520 7 22728408 intron variant A/C;G snv 18
rs587778967
EPM2AIP1 ; MLH1
0.925 0.200 3 36993548 start lost A/C;G snv 8
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
0.701 0.360 20 63678486 intron variant A/C;G snv 21
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 25
rs917411291
GZMM
0.851 0.360 19 544072 start lost A/C;G snv 9
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs267607911
MSH2
0.851 0.200 2 47403192 start lost A/C;G;T snv 5.1E-05; 1.4E-05 8
rs35767
IGF1 ; LOC105369944
0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 13
rs1447295
CASC8
0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38