Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587780184
CHEK2
22 28725044 frameshift variant -/A delins 1
rs1555913894
CHEK2
22 28695852 frameshift variant -/G delins 1
rs1555932231
CHEK2
22 28734452 frameshift variant -/G delins 1
rs876658646
CHEK2
22 28687970 frameshift variant -/G ins 1
rs1555921327
CHEK2
22 28712007 frameshift variant -/GGAG ins 1
rs730881700
CHEK2
1.000 0.080 22 28695133 frameshift variant -/T delins 2.0E-05 3.5E-05 2
rs587782707
CHEK2
22 28689173 frameshift variant -/TC delins 1.4E-05 1
rs750616657
CHEK2
22 28719413 frameshift variant -/TGAT delins 1.8E-05; 1.3E-05 1
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 7
rs748005072
CHEK2
1.000 0.080 22 28703511 frameshift variant A/- delins 4.9E-06 2
rs753159426
CHEK2
1.000 0.080 22 28695781 frameshift variant A/- delins 4.0E-06 2
rs786203458
CHEK2
1.000 0.080 22 28734445 frameshift variant A/- del 2
rs1064795959
CHEK2
22 28734440 frameshift variant A/- del 1
rs1250779080
CHEK2
22 28719481 frameshift variant A/- delins 1.4E-05 1
rs1555916968
CHEK2
22 28703534 frameshift variant A/- del 1
rs587780183
CHEK2
22 28725062 frameshift variant A/- delins 4.0E-06 1
rs765664259
CHEK2
22 28695731 frameshift variant A/- delins 1
rs876658302
CHEK2
22 28695772 frameshift variant A/-;AA delins 1
rs886039609
CHEK2
22 28719472 frameshift variant A/-;AA delins 1
rs587781705
CHEK2
0.851 0.200 22 28734506 stop gained A/C snv 5
rs1555915295
CHEK2
1.000 0.080 22 28699836 splice donor variant A/C snv 2
rs876659519
CHEK2
1.000 0.080 22 28703519 stop gained A/C snv 2
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 12
rs1248967885
CHEK2
22 28695731 stop gained A/C;G snv 4.0E-06 1
rs560596101
CHEK2
0.851 0.200 22 28725241 splice donor variant A/C;G;T snv 4.0E-06 5