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: rs1175088679
rs1175088679
CHEK2
2 0.925 0.080 22 28695764 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs137853010
rs137853010
CHEK2
3 0.882 0.120 22 28725028 missense variant G/A;C snv 1.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs17883862
rs17883862
CHEK2
3 0.882 0.080 22 28734468 missense variant G/A;C;T snv 9.1E-04; 1.2E-05 0.010 < 0.001 1 2007 2007
dbSNP: rs200050883
rs200050883
CHEK2
4 0.851 0.120 22 28695190 missense variant C/A;G;T snv 3.9E-04 3.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs200649225
rs200649225
CHEK2
2 0.925 0.080 22 28695752 missense variant C/T snv 2.8E-04 1.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs201206424
rs201206424
CHEK2
2 0.925 0.080 22 28696960 missense variant G/A;C;T snv 5.2E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs587780170
rs587780170
CHEK2
5 0.851 0.120 22 28695786 missense variant C/A;G;T snv 2.8E-05; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs587780192
rs587780192
CHEK2
3 0.925 0.080 22 28699929 missense variant C/G;T snv 4.4E-05; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs587782527
rs587782527
CHEK2
2 0.925 0.080 22 28695753 missense variant G/A;T snv 5.2E-05; 2.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs766794072
rs766794072
CHEK2
2 0.925 0.080 22 28699890 missense variant A/G snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs77130927
rs77130927
CHEK2
3 0.882 0.120 22 28725031 missense variant G/A snv 1.0E-03 5.5E-04 0.010 1.000 1 2016 2016
dbSNP: rs9620817
rs9620817
CHEK2
4 0.851 0.120 22 28712568 intron variant A/T snv 8.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs531398630
rs531398630
CHEK2
3 0.882 0.160 22 28695858 missense variant G/A snv 4.8E-04 1.1E-04 0.040 1.000 4 2008 2015
dbSNP: rs137853007
rs137853007
CHEK2
9 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.700 1.000 15 2001 2016
dbSNP: rs121908698
rs121908698
CHEK2
7 0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 0.700 1.000 14 2003 2017
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 1.000 9 2003 2012
dbSNP: rs587781269
rs587781269
CHEK2
2 1.000 0.080 22 28734439 stop gained G/A;C snv 8.0E-06 2.8E-05 0.700 1.000 6 2008 2016
dbSNP: rs200432447
rs200432447
CHEK2
4 0.925 0.200 22 28687974 stop gained G/A;C snv 4.3E-06 0.700 1.000 5 2003 2016
dbSNP: rs587782401
rs587782401
CHEK2
5 0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05 0.700 1.000 5 2016 2018
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: rs1131691045
rs1131691045
CHEK2
2 1.000 0.080 22 28689176 frameshift variant C/- del 0.700 1.000 4 2003 2014
dbSNP: rs137853011
rs137853011
CHEK2
16 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 1.000 4 2005 2012
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: rs587782575
rs587782575
CHEK2
2 1.000 0.080 22 28689217 splice acceptor variant T/C snv 4.3E-06 0.700 1.000 4 2011 2016