Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587782684
CHEK2
22 28687962 frameshift variant G/- delins 1
rs876658646
CHEK2
22 28687970 frameshift variant -/G ins 1
rs200432447
CHEK2
0.925 0.200 22 28687974 stop gained G/A;C snv 4.3E-06 4
rs587782707
CHEK2
22 28689173 frameshift variant -/TC delins 1.4E-05 1
rs1131691045
CHEK2
1.000 0.080 22 28689176 frameshift variant C/- del 2
rs774175654
CHEK2
22 28689188 frameshift variant C/- del 1.4E-05 1
rs756250205
CHEK2
22 28689191 stop gained G/A;T snv 1.4E-05 1
rs1555912060
CHEK2
22 28689194 frameshift variant AC/- del 1
rs1060502698
CHEK2
22 28689216 splice acceptor variant C/T snv 7.0E-06 1
rs587782575
CHEK2
1.000 0.080 22 28689217 splice acceptor variant T/C snv 4.3E-06 2
rs886039629
CHEK2
1.000 0.080 22 28694031 splice donor variant C/A;T snv 2
rs876659250
CHEK2
22 28694034 stop gained G/A snv 1.7E-05 1
rs1555913078
CHEK2
22 28694042 frameshift variant G/- delins 1
rs1555913106
CHEK2
1.000 0.080 22 28694058 stop gained C/A snv 2
rs786202601
CHEK2
1.000 0.120 22 28694059 frameshift variant T/- delins 2
rs142763740
CHEK2
1.000 0.080 22 28694066 missense variant G/A;C;T snv 3.3E-04 3.1E-04 2
rs876659287
CHEK2
22 28694118 splice acceptor variant C/G;T snv 1
rs1483241325
CHEK2
1.000 0.080 22 28695125 splice donor variant A/T snv 7.0E-06 2
rs876660801
CHEK2
22 28695125 splice donor variant AC/- del 1
rs730881700
CHEK2
1.000 0.080 22 28695133 frameshift variant -/T delins 2.0E-05 3.5E-05 2
rs1555913410
CHEK2
22 28695134 frameshift variant T/- del 1
rs876659639
CHEK2
1.000 0.080 22 28695165 frameshift variant T/- delins 2
rs1555913464
CHEK2
22 28695179 frameshift variant G/- delins 1
rs778989252
CHEK2
1.000 0.080 22 28695187 stop gained G/A;C snv 4.0E-06; 4.0E-06 2
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 10