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: 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: 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: 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: rs587782070
rs587782070
CHEK2
2 1.000 0.080 22 28734443 stop gained C/T snv 2.4E-05 0.700 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: rs796389290
rs796389290
CHEK2
2 1.000 0.080 22 28725040 stop gained T/A;C snv 4.0E-06 0.700 1.000 1 2012 2012
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: rs1060502710
rs1060502710
CHEK2
1 1.000 0.080 22 28711922 stop gained G/T snv 0.700 0
dbSNP: rs1231012263
rs1231012263
CHEK2
2 1.000 0.080 22 28734622 stop gained G/A snv 0.700 0
dbSNP: rs1555913106
rs1555913106
CHEK2
2 1.000 0.080 22 28694058 stop gained C/A snv 0.700 0
dbSNP: rs1555913494
rs1555913494
CHEK2
1 1.000 0.080 22 28695205 stop gained G/A snv 0.700 0
dbSNP: rs1555913645
rs1555913645
CHEK2
2 1.000 0.080 22 28695723 stop gained TAACTCCTA/CTCCT delins 0.700 0
dbSNP: rs1555926996
rs1555926996
CHEK2
1 1.000 0.080 22 28725101 stop gained G/A;T snv 0.700 0
dbSNP: rs1555927312
rs1555927312
CHEK2
1 1.000 0.080 22 28725323 stop gained CA/- delins 0.700 0
dbSNP: rs1555932326
rs1555932326
CHEK2
1 1.000 0.080 22 28734475 stop gained G/A snv 0.700 0
dbSNP: rs1555932341
rs1555932341
CHEK2
1 1.000 0.080 22 28734490 stop gained G/A snv 0.700 0
dbSNP: rs200917541
rs200917541
CHEK2
5 0.851 0.200 22 28725270 stop gained G/A;T snv 0.700 0
dbSNP: rs371418985
rs371418985
CHEK2
2 1.000 0.080 22 28695737 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs587781592
rs587781592
CHEK2
2 1.000 0.080 22 28734571 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs587781705
rs587781705
CHEK2
5 0.851 0.200 22 28734506 stop gained A/C snv 0.700 0
dbSNP: rs730881702
rs730881702
CHEK2
1 1.000 0.080 22 28695146 stop gained C/T snv 0.700 0
dbSNP: rs761494650
rs761494650
CHEK2
3 0.925 0.160 22 28734637 stop gained G/A snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs768384031
rs768384031
CHEK2
2 1.000 0.080 22 28734517 stop gained G/A;T snv 4.0E-06 0.700 0