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: rs371418985
rs371418985
CHEK2
2 1.000 0.080 22 28695737 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs540635787
rs540635787
CHEK2
4 0.851 0.200 22 28694073 missense variant G/A;C;T snv 1.7E-05 0.700 0
dbSNP: rs560596101
rs560596101
CHEK2
5 0.851 0.200 22 28725241 splice donor variant A/C;G;T snv 4.0E-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: rs587782008
rs587782008
CHEK2
3 0.925 0.200 22 28725084 inframe deletion TCT/- delins 1.6E-05 0.700 0
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: rs587782766
rs587782766
CHEK2
2 1.000 0.080 22 28734475 frameshift variant G/- delins 1.6E-05 7.0E-06 0.700 0
dbSNP: rs587782849
rs587782849
CHEK2
1 1.000 0.080 22 28724974 splice region variant T/A snv 3.2E-05 1.4E-05 0.700 0
dbSNP: rs72552322
rs72552322
CHEK2
7 0.925 0.120 22 28725070 missense variant C/T snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs730881702
rs730881702
CHEK2
1 1.000 0.080 22 28695146 stop gained C/T snv 0.700 0
dbSNP: rs749153163
rs749153163
CHEK2
1 1.000 0.080 22 28699894 frameshift variant G/- del 0.700 0
dbSNP: rs753159426
rs753159426
CHEK2
2 1.000 0.080 22 28695781 frameshift variant A/- delins 4.0E-06 0.700 0
dbSNP: rs758677815
rs758677815
CHEK2
2 1.000 0.080 22 28695805 frameshift variant G/-;GG;GGG;GGGG delins 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: rs765080766
rs765080766
CHEK2
2 1.000 0.080 22 28734402 splice donor variant C/G;T snv 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
dbSNP: rs768973809
rs768973809
CHEK2
1 1.000 0.080 22 28699858 stop gained G/A;C snv 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: rs772683219
rs772683219
CHEK2
2 1.000 0.080 22 28703537 frameshift variant AA/-;A;AAA delins 0.700 0
dbSNP: rs775167943
rs775167943
CHEK2
1 1.000 0.080 22 28724991 frameshift variant AG/- del 8.0E-06 0.700 0
dbSNP: rs778989252
rs778989252
CHEK2
2 1.000 0.080 22 28695187 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs786203053
rs786203053
CHEK2
2 1.000 0.080 22 28699926 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs786203229
rs786203229
CHEK2
2 1.000 0.080 22 28719486 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs786203977
rs786203977
CHEK2
1 1.000 0.080 22 28734719 start lost C/A;T snv 4.1E-06 0.700 0