Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2016347
IGF1R
0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 9
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 15
rs587782148
TP53
17 7676113 missense variant C/T snv 2
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 56
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 36
rs375874539
TP53
0.732 0.320 17 7674237 missense variant G/A;C snv 5
rs1288373809
TP53
0.882 0.120 17 7673255 synonymous variant G/A snv 5.3E-06 5
rs587782529
TP53
0.851 0.200 17 7670700 missense variant G/A;C snv 6
rs367597251
MDM2
0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04 10
rs137852578
AR
0.827 0.080 X 67723710 missense variant A/G snv 9
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 187
rs2057482
HIF1A-AS2 ; HIF1A-AS3 ; HIF1A
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 21
rs11549467
HIF1A ; HIF1A-AS3
0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 30
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs7121
GNAS
0.882 0.160 20 58903752 missense variant C/G;T snv 0.54 6
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 37
rs961150162
EGFR
7 55198779 missense variant G/A;C snv 3
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs121434569
EGFR-AS1 ; EGFR
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs2227983
EGFR
0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs969139366
PDGFRA
4 54277974 missense variant T/C snv 3.5E-05 3