Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 16
rs778212685
CHEK2
0.827 0.120 22 28712015 missense variant C/A;G;T snv 4.0E-06 8
rs121908698
CHEK2
0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 7
rs72552322
CHEK2
0.925 0.120 22 28725070 missense variant C/T snv 2.4E-05 7.0E-06 7
rs730881701
CHEK2
0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06 6
rs200917541
CHEK2
0.851 0.200 22 28725270 stop gained G/A;T snv 5
rs560596101
CHEK2
0.851 0.200 22 28725241 splice donor variant A/C;G;T snv 4.0E-06 5
rs587780170
CHEK2
0.851 0.120 22 28695786 missense variant C/A;G;T snv 2.8E-05; 8.0E-06 5
rs587781705
CHEK2
0.851 0.200 22 28734506 stop gained A/C snv 5
rs587782401
CHEK2
0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05 5
rs786203472
CHEK2
0.827 0.120 22 28719414 start lost T/C snv 5
rs863224748
CHEK2
0.827 0.120 22 28734721 start lost T/C snv 5
rs121908702
CHEK2
0.882 0.120 22 28711986 stop gained C/A;G;T snv 8.0E-06; 4.0E-06; 7.6E-05 4
rs200050883
CHEK2
0.851 0.120 22 28695190 missense variant C/A;G;T snv 3.9E-04 3.4E-04 4
rs540635787
CHEK2
0.851 0.200 22 28694073 missense variant G/A;C;T snv 1.7E-05 4
rs137853010
CHEK2
0.882 0.120 22 28725028 missense variant G/A;C snv 1.1E-04 3
rs77130927
CHEK2
0.882 0.120 22 28725031 missense variant G/A snv 1.0E-03 5.5E-04 3
rs137853009
CHEK2
0.925 0.080 22 28725030 missense variant C/A;T snv 4.0E-06; 6.0E-05 2
rs141568342
CHEK2
1.000 0.080 22 28734532 missense variant C/T snv 1.6E-04 1.5E-04 2
rs17886163
CHEK2
0.925 0.080 22 28695159 missense variant A/C snv 1.4E-03 5.4E-03 2
rs121908701
CHEK2
1.000 0.080 22 28725027 missense variant C/T snv 1.4E-04 6.3E-05 1
rs143611747
CHEK2
1.000 0.080 22 28699893 missense variant C/A;G;T snv 4.0E-06; 8.0E-06; 4.0E-06; 4.8E-05 1
rs587780189
CHEK2
1.000 0.080 22 28711950 missense variant T/A snv 8.0E-06 8.4E-05 1