Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs773955899
CHEK2
22 28719456 frameshift variant C/- del 8.7E-06 1
rs761494650
CHEK2
0.925 0.160 22 28734637 stop gained G/A snv 4.0E-06; 8.0E-06 3
rs371418985
CHEK2
1.000 0.080 22 28695737 stop gained C/T snv 8.0E-06 2
rs765080766
CHEK2
1.000 0.080 22 28734402 splice donor variant C/G;T snv 8.0E-06 2
rs760502479
CHEK2
22 28696985 stop gained G/T snv 8.0E-06 1
rs587781269
CHEK2
1.000 0.080 22 28734439 stop gained G/A;C snv 8.0E-06 2.8E-05 2
rs766416564
CHEK2
22 28734499 frameshift variant ATAGA/- delins 8.0E-06 1
rs748005072
CHEK2
1.000 0.080 22 28703511 frameshift variant A/- delins 4.9E-06 2
rs1346554630
CHEK2
1.000 0.080 22 28719461 frameshift variant CA/- delins 4.3E-06 2
rs200432447
CHEK2
0.925 0.200 22 28687974 stop gained G/A;C snv 4.3E-06 4
rs587782575
CHEK2
1.000 0.080 22 28689217 splice acceptor variant T/C snv 4.3E-06 2
rs757016287
CHEK2
22 28734702 frameshift variant ATCCGAC/- delins 4.1E-06 1
rs1474786480
CHEK2
22 28710034 frameshift variant CT/- delins 4.0E-06 1
rs1248967885
CHEK2
22 28695731 stop gained A/C;G snv 4.0E-06 1
rs778989252
CHEK2
1.000 0.080 22 28695187 stop gained G/A;C snv 4.0E-06; 4.0E-06 2
rs766158073
CHEK2
1.000 0.080 22 28696989 splice acceptor variant T/C snv 4.0E-06 2
rs753159426
CHEK2
1.000 0.080 22 28695781 frameshift variant A/- delins 4.0E-06 2
rs545982789
CHEK2
1.000 0.080 22 28711907 splice donor variant A/G snv 4.0E-06; 4.0E-06 7.0E-06 2
rs560596101
CHEK2
0.851 0.200 22 28725241 splice donor variant A/C;G;T snv 4.0E-06 5
rs587781592
CHEK2
1.000 0.080 22 28734571 stop gained G/A;T snv 4.0E-06 2
rs796389290
CHEK2
1.000 0.080 22 28725040 stop gained T/A;C snv 4.0E-06 2
rs587780183
CHEK2
22 28725062 frameshift variant A/- delins 4.0E-06 1
rs768384031
CHEK2
1.000 0.080 22 28734517 stop gained G/A;T snv 4.0E-06 2
rs200917541
CHEK2
0.851 0.200 22 28725270 stop gained G/A;T snv 5
rs587781705
CHEK2
0.851 0.200 22 28734506 stop gained A/C snv 5