Gene: CHEK2 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517596
rs1057517596
CHEK2
1 1.000 0.080 22 28699937 splice acceptor variant C/- delins 0.700 0
dbSNP: rs1060502687
rs1060502687
CHEK2
1 1.000 0.080 22 28711917 frameshift variant TT/- del 0.700 0
dbSNP: rs1060502710
rs1060502710
CHEK2
1 1.000 0.080 22 28711922 stop gained G/T snv 0.700 0
dbSNP: rs1131691044
rs1131691044
CHEK2
2 1.000 0.080 22 28711939 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1225437533
rs1225437533
CHEK2
2 1.000 0.080 22 28725091 frameshift variant T/- del 0.700 0
dbSNP: rs1231012263
rs1231012263
CHEK2
2 1.000 0.080 22 28734622 stop gained G/A snv 0.700 0
dbSNP: rs1342011335
rs1342011335
CHEK2
1 1.000 0.080 22 28719405 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs1346554630
rs1346554630
CHEK2
2 1.000 0.080 22 28719461 frameshift variant CA/- delins 4.3E-06 0.700 0
dbSNP: rs142763740
rs142763740
CHEK2
2 1.000 0.080 22 28694066 missense variant G/A;C;T snv 3.3E-04 3.1E-04 0.700 0
dbSNP: rs1555912044
rs1555912044
CHEK2
1 1.000 0.080 22 28689181 frameshift variant GAAGA/-;GA delins 0.700 0
dbSNP: rs1555913094
rs1555913094
CHEK2
1 1.000 0.080 22 28694049 frameshift variant TT/- del 0.700 0
dbSNP: rs1555913106
rs1555913106
CHEK2
2 1.000 0.080 22 28694058 stop gained C/A snv 0.700 0
dbSNP: rs1555913493
rs1555913493
CHEK2
1 1.000 0.080 22 28695203 frameshift variant TT/- del 0.700 0
dbSNP: rs1555913494
rs1555913494
CHEK2
1 1.000 0.080 22 28695205 stop gained G/A snv 0.700 0
dbSNP: rs1555913632
rs1555913632
CHEK2
1 1.000 0.080 22 28695708 splice donor variant A/- del 0.700 0
dbSNP: rs1555913645
rs1555913645
CHEK2
2 1.000 0.080 22 28695723 stop gained TAACTCCTA/CTCCT delins 0.700 0
dbSNP: rs1555913941
rs1555913941
CHEK2
1 1.000 0.080 22 28695873 frameshift variant T/- del 0.700 0
dbSNP: rs1555914279
rs1555914279
CHEK2
1 1.000 0.080 22 28696933 frameshift variant G/- del 0.700 0
dbSNP: rs1555915295
rs1555915295
CHEK2
2 1.000 0.080 22 28699836 splice donor variant A/C snv 0.700 0
dbSNP: rs1555915298
rs1555915298
CHEK2
2 1.000 0.080 22 28699837 splice donor variant C/A;T snv 0.700 0
dbSNP: rs1555915392
rs1555915392
CHEK2
1 1.000 0.080 22 28699866 frameshift variant -/A delins 0.700 0
dbSNP: rs1555916987
rs1555916987
CHEK2
1 1.000 0.080 22 28703543 frameshift variant G/- del 0.700 0
dbSNP: rs1555921290
rs1555921290
CHEK2
1 1.000 0.080 22 28711995 frameshift variant G/- del 0.700 0
dbSNP: rs1555926996
rs1555926996
CHEK2
1 1.000 0.080 22 28725101 stop gained G/A;T snv 0.700 0
dbSNP: rs1555927038
rs1555927038
CHEK2
1 1.000 0.080 22 28725121 frameshift variant C/- del 0.700 0