ANKRD11, ankyrin repeat domain 11, 29123

N. diseases: 177; N. variants: 66
Disease: KBG syndrome ×
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: rs1567574291
rs1567574291 		1.000 0.280 16 89283343 frameshift variant AT/- delins
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs749632782
rs749632782 		1.000 0.280 16 89282336 stop gained G/A;C snv 2.0E-05 7.0E-06
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs797045027
rs797045027 		1.000 0.280 16 89284141 frameshift variant CTTT/- delins
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs863225296
rs863225296 		1.000 0.280 16 89279362 stop gained G/A snv
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 1.000 1 2011 2011
dbSNP: rs886039734
rs886039734 		1.000 0.280 16 89284364 frameshift variant TTGT/- delins 4.0E-06
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs886041125
rs886041125 		0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs1057518663
rs1057518663 		1.000 0.280 16 89283420 stop gained G/T snv
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057519399
rs1057519399 		1.000 0.280 16 89281038 frameshift variant A/- del
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1064793539
rs1064793539 		1.000 0.280 16 89283458 stop gained G/T snv
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1064794330
rs1064794330 		1.000 0.280 16 89283315 frameshift variant CTTT/- delins
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1135401804
rs1135401804 		1.000 0.280 16 89283895 stop gained C/A snv
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1135401815
rs1135401815 		1.000 0.280 16 89279755 frameshift variant -/T ins
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1221781038
rs1221781038 		0.925 0.280 16 89279695 stop gained G/A;T snv
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1381957912
rs1381957912 		1.000 0.280 16 89279872 stop gained C/A;T snv 5.5E-06
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555521799
rs1555521799 		1.000 0.280 16 89270872 missense variant G/T snv
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555525115
rs1555525115 		0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555525977
rs1555525977 		1.000 0.280 16 89280344 stop gained GA/TT mnv
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555527341
rs1555527341 		1.000 0.280 16 89281489 frameshift variant T/- del
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555527929
rs1555527929 		1.000 0.280 16 89282254 stop gained T/A snv
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555528356
rs1555528356 		0.790 0.360 16 89282836 stop gained G/A snv
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555528400
rs1555528400 		1.000 0.280 16 89282909 frameshift variant TT/- delins
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555529181
rs1555529181 		1.000 0.280 16 89284135 frameshift variant GAGT/- delins
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555529551
rs1555529551 		1.000 0.280 16 89284863 stop gained G/C snv
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555529645
rs1555529645 		0.925 0.280 16 89285079 frameshift variant CT/- delins
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555529979
rs1555529979 		1.000 0.280 16 89285565 frameshift variant C/- delins
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0