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: 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
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: rs200928781
rs200928781
CHEK2
11 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 0.810 1.000 13 2002 2018
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: rs1131691045
rs1131691045
CHEK2
2 1.000 0.080 22 28689176 frameshift variant C/- del 0.700 1.000 4 2003 2014
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
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 4 2015 2016
dbSNP: rs1060502684
rs1060502684
CHEK2
2 1.000 0.080 22 28695829 frameshift variant AG/- delins 0.700 1.000 3 2010 2014
dbSNP: rs1555911636
rs1555911636
CHEK2
1 1.000 0.080 22 28687982 frameshift variant -/A delins 0.700 1.000 3 2003 2014
dbSNP: rs1060502716
rs1060502716
CHEK2
3 1.000 0.080 22 28695874 splice acceptor variant C/A;G;T snv 0.700 1.000 2 2011 2014
dbSNP: rs121908707
rs121908707
CHEK2
3 0.925 0.160 22 28695709 splice donor variant C/A;G;T snv 0.700 1.000 2 2011 2014
dbSNP: rs1555911638
rs1555911638
CHEK2
1 1.000 0.080 22 28687983 splice acceptor variant CTGAAAATAAAGG/- delins 0.700 1.000 2 2011 2014
dbSNP: rs1555913631
rs1555913631
CHEK2
1 1.000 0.080 22 28695708 splice donor variant A/G snv 0.700 1.000 2 2011 2014
dbSNP: rs1555914382
rs1555914382
CHEK2
1 1.000 0.080 22 28696988 splice acceptor variant C/T snv 0.700 1.000 2 2011 2014
dbSNP: rs1555924538
rs1555924538
CHEK2
1 1.000 0.080 22 28719478 frameshift variant G/- del 0.700 1.000 2 2011 2014
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: rs1569127917
rs1569127917
CHEK2
1 1.000 0.080 22 28703497 splice donor variant CTACTTAC/AA delins 0.700 1.000 2 2011 2014
dbSNP: rs587781699
rs587781699
CHEK2
3 0.925 0.200 22 28703504 splice donor variant C/A;G;T snv 0.700 1.000 2 2011 2014
dbSNP: rs766158073
rs766158073
CHEK2
2 1.000 0.080 22 28696989 splice acceptor variant T/C snv 4.0E-06 0.700 1.000 2 2011 2014
dbSNP: rs768172525
rs768172525
CHEK2
2 1.000 0.080 22 28696900 splice donor variant C/A;T snv 0.700 1.000 2 2011 2014
dbSNP: rs774831804
rs774831804
CHEK2
1 1.000 0.080 22 28711908 splice donor variant CT/- del 0.700 1.000 2 2011 2014