Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137854617 0.882 0.120 3 38581002 stop gained C/A;T snv 1.1E-04 1.5E-04 3
rs63749973 0.925 0.160 2 47799679 stop gained G/A;T snv 2.4E-04 2.8E-05 2
rs397508759 0.851 0.160 7 117534363 stop gained G/A;T snv 4.0E-06 2
rs137854450 0.882 0.080 19 855574 stop gained C/A;T snv 2
rs200763423 0.925 0.160 11 6391807 stop gained G/A;C;T snv 4.0E-06 2
rs121908150 0.851 0.080 1 247424227 stop gained C/T snv 2
rs121913254 0.658 0.440 1 114713909 stop gained G/A;C;T snv 2
rs137852676 0.882 0.160 11 17395852 stop gained C/A;T snv 1.5E-05 2
rs886043751 0.925 0.240 16 20348557 stop gained G/C;T snv 2
rs199473204 0.925 0.120 3 38566576 stop gained C/A;T snv 4.0E-06 2
rs137854601 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 2
rs62642584 0.925 0.080 1 68444825 stop gained C/A;T snv 3.6E-05 2
rs199473062 0.827 0.120 3 38622401 stop gained C/A;G;T snv 4.1E-06 2
rs199473153 0.882 0.120 3 38597737 stop gained C/A;T snv 4.0E-06 2
rs757212984 0.882 0.040 5 179836543 stop gained G/A;T snv 3.2E-05; 4.0E-06 2
rs869312214 1.000 0.160 X 101398078 stop gained C/A;T snv 1
rs869312246 1.000 0.160 X 101397858 stop gained A/G;T snv 1
rs28935491 1.000 0.160 X 101398390 stop gained G/A;T snv 1
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 1
rs397508994 0.925 0.080 17 43092856 stop gained A/C;G snv 1
rs80358961 0.925 0.080 13 32319082 stop gained G/A;T snv 4.0E-06 1
rs74315503
NF2
0.925 0.200 22 29674882 stop gained G/A;T snv 9.6E-05 1
rs80359082 0.882 0.200 13 32370447 stop gained G/A;T snv 8.0E-06 1
rs80356923 0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 1
rs80357438 0.851 0.200 17 43124032 stop gained A/G;T snv 1