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: rs1555911635
rs1555911635
CHEK2
1 1.000 0.080 22 28687982 frameshift variant G/- del 0.700 1.000 4 2003 2014
dbSNP: rs1555911640
rs1555911640
CHEK2
1 1.000 0.080 22 28687985 frameshift variant G/- delins 0.700 1.000 4 2003 2014
dbSNP: rs1555911636
rs1555911636
CHEK2
1 1.000 0.080 22 28687982 frameshift variant -/A delins 0.700 1.000 3 2003 2014
dbSNP: rs1555911638
rs1555911638
CHEK2
1 1.000 0.080 22 28687983 splice acceptor variant CTGAAAATAAAGG/- delins 0.700 1.000 2 2011 2014
dbSNP: rs1555913631
rs1555913631
CHEK2
1 1.000 0.080 22 28695708 splice donor variant A/G snv 0.700 1.000 2 2011 2014
dbSNP: rs1555914382
rs1555914382
CHEK2
1 1.000 0.080 22 28696988 splice acceptor variant C/T snv 0.700 1.000 2 2011 2014
dbSNP: rs1555924538
rs1555924538
CHEK2
1 1.000 0.080 22 28719478 frameshift variant G/- del 0.700 1.000 2 2011 2014
dbSNP: rs1569115687
rs1569115687
CHEK2
1 1.000 0.080 22 28696899 splice donor variant A/C snv 0.700 1.000 2 2011 2014
dbSNP: rs1569127917
rs1569127917
CHEK2
1 1.000 0.080 22 28703497 splice donor variant CTACTTAC/AA delins 0.700 1.000 2 2011 2014
dbSNP: rs774831804
rs774831804
CHEK2
1 1.000 0.080 22 28711908 splice donor variant CT/- del 0.700 1.000 2 2011 2014
dbSNP: rs779844113
rs779844113
CHEK2
1 1.000 0.080 22 28694030 splice donor variant A/C;G snv 4.3E-06 0.700 1.000 2 2011 2014
dbSNP: rs781021132
rs781021132
CHEK2
1 1.000 0.080 22 28719393 splice donor variant A/G snv 0.700 1.000 2 2011 2014
dbSNP: rs1555912001
rs1555912001
CHEK2
1 1.000 0.080 22 28689154 frameshift variant -/G delins 0.700 1.000 1 2003 2003
dbSNP: rs587780173
rs587780173
CHEK2
1 1.000 0.080 22 28695715 frameshift variant A/- delins 0.700 1.000 1 2016 2016
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: rs1342011335
rs1342011335
CHEK2
1 1.000 0.080 22 28719405 frameshift variant T/-;TT delins 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: 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: 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