ANKRD11, ankyrin repeat domain 11, 29123

N. diseases: 177; N. variants: 66
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1221781038
rs1221781038
0.925 0.280 16 89279695 stop gained G/A;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2017
dbSNP: rs1555524861
rs1555524861
1.000 16 89279215 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2017
dbSNP: rs1555526796
rs1555526796
1.000 16 89281005 frameshift variant A/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2017
dbSNP: rs1555527497
rs1555527497
1.000 16 89281640 frameshift variant A/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2017
dbSNP: rs1555528357
rs1555528357
1.000 16 89282837 frameshift variant ATTT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2017
dbSNP: rs1555528558
rs1555528558
1.000 16 89283207 frameshift variant -/T delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2017
dbSNP: rs1555529052
rs1555529052
1.000 16 89284048 frameshift variant T/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2017
dbSNP: rs1555529297
rs1555529297
1.000 16 89284412 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2017
dbSNP: rs1555529572
rs1555529572
1.000 16 89284912 frameshift variant GTGCTGGT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2017
dbSNP: rs1555529645
rs1555529645
0.925 0.280 16 89285079 frameshift variant CT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2017
dbSNP: rs1555529726
rs1555529726
1.000 16 89285153 frameshift variant T/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2017
dbSNP: rs1555529734
rs1555529734
1.000 16 89285160 frameshift variant CT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2017
dbSNP: rs878855327
rs878855327
0.925 0.280 16 89279750 frameshift variant G/-;GG delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2017
dbSNP: rs886039477
rs886039477
0.925 0.280 16 89282771 frameshift variant TT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2017
dbSNP: rs886041791
rs886041791
0.925 0.280 16 89284345 stop gained G/A;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 17 2004 2017