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: rs1564606246
rs1564606246
KAT6B
1 1.000 0.280 10 74985114 frameshift variant ACCTT/- del 0.700 0
dbSNP: rs1555521799
rs1555521799
ANKRD11
2 1.000 0.280 16 89270872 missense variant G/T snv 0.700 0
dbSNP: rs863223319
rs863223319
ANKRD11
1 1.000 0.280 16 89274958 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs863225296
rs863225296
ANKRD11
1 1.000 0.280 16 89279362 stop gained G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs1555525115
rs1555525115
ANKRD11
5 0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins 0.700 0
dbSNP: rs1221781038
rs1221781038
ANKRD11
2 0.925 0.280 16 89279695 stop gained G/A;T snv 0.700 0
dbSNP: rs878855327
rs878855327
ANKRD11
5 0.925 0.280 16 89279750 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1135401815
rs1135401815
ANKRD11
1 1.000 0.280 16 89279755 frameshift variant -/T ins 0.700 0
dbSNP: rs1381957912
rs1381957912
ANKRD11
1 1.000 0.280 16 89279872 stop gained C/A;T snv 5.5E-06 0.700 0
dbSNP: rs869312713
rs869312713
ANKRD11
6 0.882 0.320 16 89280070 stop gained C/A snv 0.700 0
dbSNP: rs763407068
rs763407068
ANKRD11
2 1.000 0.280 16 89280330 stop gained G/A;C snv 5.6E-05 0.700 0
dbSNP: rs863225257
rs863225257
ANKRD11
1 1.000 0.280 16 89280331 frameshift variant AC/- del 0.700 0
dbSNP: rs1555525977
rs1555525977
ANKRD11
1 1.000 0.280 16 89280344 stop gained GA/TT mnv 0.700 0
dbSNP: rs879253753
rs879253753
ANKRD11
19 0.851 0.280 16 89280526 frameshift variant -/T delins 0.700 0
dbSNP: rs863223321
rs863223321
ANKRD11
1 1.000 0.280 16 89280588 frameshift variant TG/- delins 0.700 0
dbSNP: rs1057519399
rs1057519399
ANKRD11
2 1.000 0.280 16 89281038 frameshift variant A/- del 0.700 0
dbSNP: rs1567566026
rs1567566026
ANKRD11
1 1.000 0.280 16 89281477 frameshift variant G/- delins 0.700 0
dbSNP: rs1555527341
rs1555527341
ANKRD11
1 1.000 0.280 16 89281489 frameshift variant T/- del 0.700 0
dbSNP: rs1555527929
rs1555527929
ANKRD11
1 1.000 0.280 16 89282254 stop gained T/A snv 0.700 0
dbSNP: rs749632782
rs749632782
ANKRD11
1 1.000 0.280 16 89282336 stop gained G/A;C snv 2.0E-05 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1567571990
rs1567571990
ANKRD11
1 1.000 0.280 16 89282769 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs886039477
rs886039477
ANKRD11
3 0.925 0.280 16 89282771 frameshift variant TT/- delins 0.700 0
dbSNP: rs1567572265
rs1567572265
ANKRD11
1 1.000 0.280 16 89282833 frameshift variant CT/- delins 0.700 0
dbSNP: rs1555528356
rs1555528356
ANKRD11
13 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
dbSNP: rs1555528400
rs1555528400
ANKRD11
1 1.000 0.280 16 89282909 frameshift variant TT/- delins 0.700 0