Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 7
rs786201906
CHEK2
1.000 0.080 22 28695243 splice acceptor variant C/T snv 7.0E-06 2
rs121908707
CHEK2
0.925 0.160 22 28695709 splice donor variant C/A;G;T snv 3
rs1555913645
CHEK2
1.000 0.080 22 28695723 stop gained TAACTCCTA/CTCCT delins 2
rs1248967885
CHEK2
22 28695731 stop gained A/C;G snv 4.0E-06 1
rs765664259
CHEK2
22 28695731 frameshift variant A/- delins 1
rs786203031
CHEK2
22 28695732 frameshift variant ACTCCAGCAGTCCACA/- delins 1
rs1555913672
CHEK2
22 28695736 frameshift variant ACAGCACGGTTATACCCAGCAGTCC/- delins 1
rs371418985
CHEK2
1.000 0.080 22 28695737 stop gained C/T snv 8.0E-06 2
rs587781836
CHEK2
22 28695757 stop gained A/T snv 1
rs876658302
CHEK2
22 28695772 frameshift variant A/-;AA delins 1
rs753159426
CHEK2
1.000 0.080 22 28695781 frameshift variant A/- delins 4.0E-06 2
rs200928781
CHEK2
0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 2
rs758677815
CHEK2
1.000 0.080 22 28695805 frameshift variant G/-;GG;GGG;GGGG delins 2
rs1060502684
CHEK2
1.000 0.080 22 28695829 frameshift variant AG/- delins 2
rs1555913894
CHEK2
22 28695852 frameshift variant -/G delins 1
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs876659838
CHEK2
22 28695871 splice acceptor variant TCTAAA/- delins 1
rs1060502716
CHEK2
1.000 0.080 22 28695874 splice acceptor variant C/A;G;T snv 3
rs768172525
CHEK2
1.000 0.080 22 28696900 splice donor variant C/A;T snv 2
rs878854909
CHEK2
22 28696924 stop gained G/A snv 1
rs760502479
CHEK2
22 28696985 stop gained G/T snv 8.0E-06 1
rs766158073
CHEK2
1.000 0.080 22 28696989 splice acceptor variant T/C snv 4.0E-06 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