Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs200917541
CHEK2
0.851 0.200 22 28725270 stop gained G/A;T snv 5
rs587781705
CHEK2
0.851 0.200 22 28734506 stop gained A/C snv 5
rs730881701
CHEK2
0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06 5
rs200432447
CHEK2
0.925 0.200 22 28687974 stop gained G/A;C snv 4.3E-06 4
rs121908702
CHEK2
0.882 0.120 22 28711986 stop gained C/A;G;T snv 8.0E-06; 4.0E-06; 7.6E-05 3
rs761494650
CHEK2
0.925 0.160 22 28734637 stop gained G/A snv 4.0E-06; 8.0E-06 3
rs1231012263
CHEK2
1.000 0.080 22 28734622 stop gained G/A snv 2
rs1555913106
CHEK2
1.000 0.080 22 28694058 stop gained C/A snv 2
rs1555913645
CHEK2
1.000 0.080 22 28695723 stop gained TAACTCCTA/CTCCT delins 2
rs371418985
CHEK2
1.000 0.080 22 28695737 stop gained C/T snv 8.0E-06 2
rs536907995
CHEK2
0.882 0.120 22 28734664 stop gained G/A snv 1.4E-04 2.8E-05 2
rs587781269
CHEK2
1.000 0.080 22 28734439 stop gained G/A;C snv 8.0E-06 2.8E-05 2
rs587781592
CHEK2
1.000 0.080 22 28734571 stop gained G/A;T snv 4.0E-06 2
rs587782070
CHEK2
1.000 0.080 22 28734443 stop gained C/T snv 2.4E-05 2
rs768384031
CHEK2
1.000 0.080 22 28734517 stop gained G/A;T snv 4.0E-06 2
rs778989252
CHEK2
1.000 0.080 22 28695187 stop gained G/A;C snv 4.0E-06; 4.0E-06 2
rs796389290
CHEK2
1.000 0.080 22 28725040 stop gained T/A;C snv 4.0E-06 2
rs876659519
CHEK2
1.000 0.080 22 28703519 stop gained A/C snv 2
rs886039739
CHEK2
1.000 0.080 22 28703511 stop gained A/C;T snv 2
rs905674348
CHEK2
1.000 0.080 22 28725348 stop gained G/A;C snv 7.0E-06 2
rs1233699096
CHEK2
22 28703505 stop gained A/G;T snv 7.0E-06 1
rs1248967885
CHEK2
22 28695731 stop gained A/C;G snv 4.0E-06 1
rs1555915433
CHEK2
22 28699885 stop gained C/A snv 1
rs1555917031
CHEK2
22 28703561 stop gained G/A;T snv 1
rs1555927291
CHEK2
22 28725315 stop gained G/T snv 1