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: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 1.000 32 2001 2016
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 21 1999 2017
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 1.000 17 1999 2018
dbSNP: rs28909982
rs28909982
CHEK2
4 0.925 0.080 22 28725338 missense variant T/C snv 1.2E-04 9.1E-05 0.700 1.000 11 2003 2017
dbSNP: rs137853007
rs137853007
CHEK2
9 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.700 1.000 10 2001 2017
dbSNP: rs72552322
rs72552322
CHEK2
7 0.925 0.120 22 28725070 missense variant C/T snv 2.4E-05 7.0E-06 0.700 1.000 8 2002 2017
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 7 2003 2016
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 6 2005 2017
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 6 2011 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: rs587782245
rs587782245
CHEK2
2 1.000 0.080 22 28724978 frameshift variant T/- delins 2.0E-05 2.1E-05 0.700 1.000 5 2007 2017
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 2013 2018
dbSNP: rs200928781
rs200928781
CHEK2
11 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 0.700 1.000 4 2011 2016
dbSNP: rs587780192
rs587780192
CHEK2
3 0.925 0.080 22 28699929 missense variant C/G;T snv 4.4E-05; 4.0E-06 0.700 1.000 4 2006 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 4 2008 2016
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 3 2016 2016
dbSNP: rs786203458
rs786203458
CHEK2
2 1.000 0.080 22 28734445 frameshift variant A/- del 0.700 1.000 3 2016 2016
dbSNP: rs1060502684
rs1060502684
CHEK2
2 1.000 0.080 22 28695829 frameshift variant AG/- delins 0.700 1.000 2 2010 2011
dbSNP: rs587782684
rs587782684
CHEK2
1 22 28687962 frameshift variant G/- delins 0.700 1.000 2 2003 2016
dbSNP: rs730881687
rs730881687
CHEK2
4 1.000 0.080 22 28710060 splice acceptor variant C/A;T snv 1.2E-05; 1.6E-05 0.700 1.000 2 2016 2019
dbSNP: rs730881699
rs730881699
CHEK2
2 1.000 0.080 22 28725282 frameshift variant T/- delins 0.700 1.000 2 2011 2016
dbSNP: rs121908702
rs121908702
CHEK2
4 0.882 0.120 22 28711986 stop gained C/A;G;T snv 8.0E-06; 4.0E-06; 7.6E-05 0.700 1.000 1 2003 2003
dbSNP: rs121908707
rs121908707
CHEK2
3 0.925 0.160 22 28695709 splice donor variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1233699096
rs1233699096
CHEK2
1 22 28703505 stop gained A/G;T snv 7.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs1555875915
rs1555875915
SMARCB1
1 22 23791836 frameshift variant AG/- delins 0.700 1.000 1 2010 2010