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: rs1057518663
rs1057518663
ANKRD11
1 1.000 0.280 16 89283420 stop gained G/T snv 0.700 0
dbSNP: rs1057519399
rs1057519399
ANKRD11
2 1.000 0.280 16 89281038 frameshift variant A/- del 0.700 0
dbSNP: rs1064793539
rs1064793539
ANKRD11
1 1.000 0.280 16 89283458 stop gained G/T snv 0.700 0
dbSNP: rs1064794330
rs1064794330
ANKRD11
1 1.000 0.280 16 89283315 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs1135401804
rs1135401804
ANKRD11
1 1.000 0.280 16 89283895 stop gained C/A snv 0.700 0
dbSNP: rs1135401815
rs1135401815
ANKRD11
1 1.000 0.280 16 89279755 frameshift variant -/T ins 0.700 0
dbSNP: rs1221781038
rs1221781038
ANKRD11
2 0.925 0.280 16 89279695 stop gained G/A;T snv 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: rs1555521799
rs1555521799
ANKRD11
2 1.000 0.280 16 89270872 missense variant G/T snv 0.700 0
dbSNP: rs1555525115
rs1555525115
ANKRD11
5 0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins 0.700 0
dbSNP: rs1555525977
rs1555525977
ANKRD11
1 1.000 0.280 16 89280344 stop gained GA/TT mnv 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: 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
dbSNP: rs1555529181
rs1555529181
ANKRD11
1 1.000 0.280 16 89284135 frameshift variant GAGT/- delins 0.700 0
dbSNP: rs1555529551
rs1555529551
ANKRD11
1 1.000 0.280 16 89284863 stop gained G/C snv 0.700 0
dbSNP: rs1555529645
rs1555529645
ANKRD11
2 0.925 0.280 16 89285079 frameshift variant CT/- delins 0.700 0
dbSNP: rs1555529979
rs1555529979
ANKRD11
1 1.000 0.280 16 89285565 frameshift variant C/- delins 0.700 0
dbSNP: rs1564606246
rs1564606246
KAT6B
1 1.000 0.280 10 74985114 frameshift variant ACCTT/- del 0.700 0
dbSNP: rs1567566026
rs1567566026
ANKRD11
1 1.000 0.280 16 89281477 frameshift variant G/- delins 0.700 0
dbSNP: rs1567571990
rs1567571990
ANKRD11
1 1.000 0.280 16 89282769 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs1567572265
rs1567572265
ANKRD11
1 1.000 0.280 16 89282833 frameshift variant CT/- delins 0.700 0
dbSNP: rs1567579092
rs1567579092
ANKRD11
1 1.000 0.280 16 89284494 frameshift variant TT/- del 0.700 0
dbSNP: rs1567579525
rs1567579525
ANKRD11
1 1.000 0.280 16 89284594 stop gained G/A snv 0.700 0