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: rs886039739
rs886039739
CHEK2
2 1.000 0.080 22 28703511 stop gained A/C;T snv 0.700 0
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: 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: rs781021132
rs781021132
CHEK2
1 1.000 0.080 22 28719393 splice donor variant A/G snv 0.700 1.000 2 2011 2014
dbSNP: rs766794072
rs766794072
CHEK2
2 0.925 0.080 22 28699890 missense variant A/G snv 4.0E-06 0.010 1.000 1 2020 2020
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: rs587782471
rs587782471
CHEK2
4 0.851 0.240 22 28711994 missense variant A/G;T snv 3.5E-04; 8.0E-06 0.700 0
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: 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: rs772683219
rs772683219
CHEK2
2 1.000 0.080 22 28703537 frameshift variant AA/-;A;AAA delins 0.700 0
dbSNP: rs1060502684
rs1060502684
CHEK2
2 1.000 0.080 22 28695829 frameshift variant AG/- delins 0.700 1.000 3 2010 2014
dbSNP: rs775167943
rs775167943
CHEK2
1 1.000 0.080 22 28724991 frameshift variant AG/- del 8.0E-06 0.700 0
dbSNP: rs1555932583
rs1555932583
CHEK2
1 1.000 0.080 22 28734603 frameshift variant ATATGCCCTGG/- delins 0.700 0
dbSNP: rs1555932071
rs1555932071
CHEK2
1 1.000 0.080 22 28734415 frameshift variant ATCC/- delins 0.700 0
dbSNP: rs1131691045
rs1131691045
CHEK2
2 1.000 0.080 22 28689176 frameshift variant C/- del 0.700 1.000 4 2003 2014
dbSNP: rs786202497
rs786202497
CHEK2
4 0.882 0.200 22 28719423 frameshift variant C/- del 0.700 1.000 2 2011 2014
dbSNP: rs1057517596
rs1057517596
CHEK2
1 1.000 0.080 22 28699937 splice acceptor variant C/- delins 0.700 0
dbSNP: rs1555927038
rs1555927038
CHEK2
1 1.000 0.080 22 28725121 frameshift variant C/- del 0.700 0
dbSNP: rs1555932116
rs1555932116
CHEK2
1 1.000 0.080 22 28734430 frameshift variant C/- delins 0.700 0
dbSNP: rs1569121172
rs1569121172
CHEK2
1 1.000 0.080 22 28699875 frameshift variant C/- del 0.700 0
dbSNP: rs1569157733
rs1569157733
CHEK2
1 1.000 0.080 22 28725075 frameshift variant C/- delins 0.700 0
dbSNP: rs769430546
rs769430546
CHEK2
1 1.000 0.080 22 28710029 frameshift variant C/- del 4.0E-06 0.700 0
dbSNP: rs1131691044
rs1131691044
CHEK2
2 1.000 0.080 22 28711939 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs786203053
rs786203053
CHEK2
2 1.000 0.080 22 28699926 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1555913106
rs1555913106
CHEK2
2 1.000 0.080 22 28694058 stop gained C/A snv 0.700 0