Source: CLINVAR

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 12
rs121908698
CHEK2
0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 7
rs137853007
CHEK2
0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 7
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
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
rs864622149
CHEK2
0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 5
rs200432447
CHEK2
0.925 0.200 22 28687974 stop gained G/A;C snv 4.3E-06 4
rs786202497
CHEK2
0.882 0.200 22 28719423 frameshift variant C/- del 4
rs1060502716
CHEK2
1.000 0.080 22 28695874 splice acceptor variant C/A;G;T snv 3
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
rs121908707
CHEK2
0.925 0.160 22 28695709 splice donor variant C/A;G;T snv 3
rs587781699
CHEK2
0.925 0.200 22 28703504 splice donor variant C/A;G;T snv 3
rs761494650
CHEK2
0.925 0.160 22 28734637 stop gained G/A snv 4.0E-06; 8.0E-06 3
rs1060502684
CHEK2
1.000 0.080 22 28695829 frameshift variant AG/- delins 2
rs1131691044
CHEK2
1.000 0.080 22 28711939 frameshift variant C/-;CC delins 2
rs1131691045
CHEK2
1.000 0.080 22 28689176 frameshift variant C/- del 2
rs1225437533
CHEK2
1.000 0.080 22 28725091 frameshift variant T/- del 2
rs1231012263
CHEK2
1.000 0.080 22 28734622 stop gained G/A snv 2
rs1346554630
CHEK2
1.000 0.080 22 28719461 frameshift variant CA/- delins 4.3E-06 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
rs1555915295
CHEK2
1.000 0.080 22 28699836 splice donor variant A/C snv 2
rs1555915298
CHEK2
1.000 0.080 22 28699837 splice donor variant C/A;T snv 2