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: rs1555911636
rs1555911636
CHEK2
1 1.000 0.080 22 28687982 frameshift variant -/A delins 0.700 1.000 3 2003 2014
dbSNP: rs1555915392
rs1555915392
CHEK2
1 1.000 0.080 22 28699866 frameshift variant -/A delins 0.700 0
dbSNP: rs1569113653
rs1569113653
CHEK2
1 1.000 0.080 22 28695774 frameshift variant -/ACAAGAA delins 0.700 0
dbSNP: rs1555932481
rs1555932481
CHEK2
1 1.000 0.080 22 28734566 frameshift variant -/ACTG delins 0.700 0
dbSNP: rs1555912001
rs1555912001
CHEK2
1 1.000 0.080 22 28689154 frameshift variant -/G delins 0.700 1.000 1 2003 2003
dbSNP: rs1555932913
rs1555932913
CHEK2
1 1.000 0.080 22 28734690 frameshift variant -/G delins 0.700 0
dbSNP: rs1569112324
rs1569112324
CHEK2
1 1.000 0.080 22 28695222 frameshift variant -/G ins 0.700 0
dbSNP: rs730881700
rs730881700
CHEK2
2 1.000 0.080 22 28695133 frameshift variant -/T delins 2.0E-05 3.5E-05 0.700 1.000 5 2004 2016
dbSNP: rs864622453
rs864622453
CHEK2
1 1.000 0.080 22 28725085 frameshift variant -/TTCT delins 0.700 0
dbSNP: rs587780174
rs587780174
CHEK2
7 0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 0.700 1.000 2 2011 2014
dbSNP: rs587780173
rs587780173
CHEK2
1 1.000 0.080 22 28695715 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs748005072
rs748005072
CHEK2
2 1.000 0.080 22 28703511 frameshift variant A/- delins 4.9E-06 0.700 1.000 1 2015 2015
dbSNP: rs786203458
rs786203458
CHEK2
2 1.000 0.080 22 28734445 frameshift variant A/- del 0.700 1.000 1 2016 2016
dbSNP: rs1555913632
rs1555913632
CHEK2
1 1.000 0.080 22 28695708 splice donor variant A/- del 0.700 0
dbSNP: rs1569121048
rs1569121048
CHEK2
1 1.000 0.080 22 28699861 frameshift variant A/- delins 0.700 0
dbSNP: rs1569150017
rs1569150017
CHEK2
1 1.000 0.080 22 28719457 frameshift variant A/- del 0.700 0
dbSNP: rs753159426
rs753159426
CHEK2
2 1.000 0.080 22 28695781 frameshift variant A/- delins 4.0E-06 0.700 0
dbSNP: rs1555927148
rs1555927148
CHEK2
1 1.000 0.080 22 28725255 frameshift variant A/-;AA delins 0.700 0
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: rs1555915295
rs1555915295
CHEK2
2 1.000 0.080 22 28699836 splice donor variant A/C snv 0.700 0
dbSNP: rs587781705
rs587781705
CHEK2
5 0.851 0.200 22 28734506 stop gained A/C snv 0.700 0
dbSNP: rs876659519
rs876659519
CHEK2
2 1.000 0.080 22 28703519 stop gained A/C snv 0.700 0
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.800 0.929 28 2001 2016
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: rs560596101
rs560596101
CHEK2
5 0.851 0.200 22 28725241 splice donor variant A/C;G;T snv 4.0E-06 0.700 0