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: 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: 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: 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: 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
dbSNP: rs779844113
rs779844113
CHEK2
1 1.000 0.080 22 28694030 splice donor variant A/C;G snv 4.3E-06 0.700 1.000 2 2011 2014
dbSNP: rs781021132
rs781021132
CHEK2
1 1.000 0.080 22 28719393 splice donor variant A/G snv 0.700 1.000 2 2011 2014
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: rs786202497
rs786202497
CHEK2
4 0.882 0.200 22 28719423 frameshift variant C/- del 0.700 1.000 2 2011 2014
dbSNP: rs786203650
rs786203650
CHEK2
2 1.000 0.080 22 28719394 splice donor variant C/A;G;T snv 0.700 1.000 2 2011 2014
dbSNP: rs864622149
rs864622149
CHEK2
5 0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 0.700 1.000 2 2011 2014
dbSNP: rs876661156
rs876661156
CHEK2
2 1.000 0.080 22 28734446 frameshift variant G/-;GG delins 0.700 1.000 2 2016 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: rs1555912001
rs1555912001
CHEK2
1 1.000 0.080 22 28689154 frameshift variant -/G delins 0.700 1.000 1 2003 2003
dbSNP: rs1555915589
rs1555915589
CHEK2
2 1.000 0.080 22 28699939 splice acceptor variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs587780173
rs587780173
CHEK2
1 1.000 0.080 22 28695715 frameshift variant A/- delins 0.700 1.000 1 2016 2016
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: 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: rs730881699
rs730881699
CHEK2
2 1.000 0.080 22 28725282 frameshift variant T/- delins 0.700 1.000 1 2011 2011
dbSNP: rs748005072
rs748005072
CHEK2
2 1.000 0.080 22 28703511 frameshift variant A/- delins 4.9E-06 0.700 1.000 1 2015 2015