Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs1555528356
ANKRD11
0.790 0.360 16 89282836 stop gained G/A snv 13
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs886039902
ANKRD11
0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins 6
rs869312713
ANKRD11
0.882 0.320 16 89280070 stop gained C/A snv 6
rs1555525115
ANKRD11
0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins 5
rs878855327
ANKRD11
0.925 0.280 16 89279750 frameshift variant G/-;GG delins 5
rs1555528558
ANKRD11
1.000 16 89283207 frameshift variant -/T delins 3
rs886039477
ANKRD11
0.925 0.280 16 89282771 frameshift variant TT/- delins 3
rs1555529572
ANKRD11
1.000 16 89284912 frameshift variant GTGCTGGT/- delins 2
rs1555529297
ANKRD11
1.000 16 89284412 stop gained C/T snv 2
rs1555528357
ANKRD11
1.000 16 89282837 frameshift variant ATTT/- delins 2
rs1221781038
ANKRD11
0.925 0.280 16 89279695 stop gained G/A;T snv 2
rs763407068
ANKRD11
1.000 0.280 16 89280330 stop gained G/A;C snv 5.6E-05 2
rs1555529645
ANKRD11
0.925 0.280 16 89285079 frameshift variant CT/- delins 2
rs1057519399
ANKRD11
1.000 0.280 16 89281038 frameshift variant A/- del 2
rs1555521799
ANKRD11
1.000 0.280 16 89270872 missense variant G/T snv 2
rs886041791
ANKRD11
0.925 0.280 16 89284345 stop gained G/A;T snv 2
rs797044890
ANKRD11
16 89275092 splice donor variant C/T snv 1
rs1567574466
ANKRD11
1.000 0.040 16 89283404 stop gained A/T snv 1
rs1064793539
ANKRD11
1.000 0.280 16 89283458 stop gained G/T snv 1
rs1135401804
ANKRD11
1.000 0.280 16 89283895 stop gained C/A snv 1
rs863225257
ANKRD11
1.000 0.280 16 89280331 frameshift variant AC/- del 1
rs1135401815
ANKRD11
1.000 0.280 16 89279755 frameshift variant -/T ins 1