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: 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: 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: 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: 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: 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: 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: 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: 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: rs28909982
rs28909982
CHEK2
4 0.925 0.080 22 28725338 missense variant T/C snv 1.2E-04 9.1E-05 0.710 1.000 18 2002 2019
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: 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: 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: rs536907995
rs536907995
CHEK2
5 0.882 0.120 22 28734664 stop gained G/A snv 1.4E-04 2.8E-05 0.720 1.000 4 2014 2016
dbSNP: rs587782245
rs587782245
CHEK2
2 1.000 0.080 22 28724978 frameshift variant T/- delins 2.0E-05 2.1E-05 0.700 1.000 1 2007 2007
dbSNP: rs587782849
rs587782849
CHEK2
1 1.000 0.080 22 28724974 splice region variant T/A snv 3.2E-05 1.4E-05 0.700 0
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: rs730881701
rs730881701
CHEK2
6 0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06 0.710 1.000 1 2016 2016
dbSNP: rs587782766
rs587782766
CHEK2
2 1.000 0.080 22 28734475 frameshift variant G/- delins 1.6E-05 7.0E-06 0.700 0
dbSNP: rs786201906
rs786201906
CHEK2
2 1.000 0.080 22 28695243 splice acceptor variant C/T snv 7.0E-06 0.700 1.000 2 2011 2014
dbSNP: rs72552322
rs72552322
CHEK2
7 0.925 0.120 22 28725070 missense variant C/T snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs905674348
rs905674348
CHEK2
2 1.000 0.080 22 28725348 stop gained G/A;C snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs545982789
rs545982789
CHEK2
2 1.000 0.080 22 28711907 splice donor variant A/G snv 4.0E-06; 4.0E-06 7.0E-06 0.700 1.000 2 2011 2014
dbSNP: rs1483241325
rs1483241325
CHEK2
2 1.000 0.080 22 28695125 splice donor variant A/T snv 7.0E-06 0.700 1.000 2 2011 2014
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: 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