Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1022088103
MMP2
16 55485759 missense variant G/A snv 1
rs1033313160
MAPKAP1
9 125506375 missense variant G/T snv 1
rs1046282
ERCC1 ; CD3EAP ; PPP1R13L
0.776 0.160 19 45407414 3 prime UTR variant A/G snv 0.30 10
rs104894403
GJB2
0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 7
rs1049074086
CTSD
0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 9
rs1056123575
ADAMTS1
0.925 0.080 21 26844557 missense variant G/A snv 4.2E-06 7.0E-06 4
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519788
ROS1
0.925 0.080 6 117317184 missense variant C/T snv 6
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1057519906
IDH2
0.882 0.120 15 90088607 missense variant T/A;C snv 8
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 27
rs1064793929
TP53
0.882 0.280 17 7675167 frameshift variant A/-;AA delins 5
rs11064
TNFAIP8
0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 9
rs11099592
HPSE
0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80 5
rs1114167628
PTEN
0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 5
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs1156560901
CDK15
2 201880120 missense variant A/G snv 1.4E-05 2
rs11568818
MMP7
0.763 0.280 11 102530930 upstream gene variant T/A;C snv 15
rs11662595
HRH4
0.882 0.120 18 24477006 missense variant A/G snv 8.6E-02 7.6E-02 7
rs11671784
MIR24-2 ; LOC284454 ; MIR23A ; MIR27A
0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02 9