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: 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: rs1555529297
rs1555529297 		1.000 16 89284412 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 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
dbSNP: rs117984432
rs117984432 		1.000 0.040 16 89388583 intron variant T/C snv 2.0E-02
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs140088599
rs140088599 		16 89374136 intron variant C/G snv 1.1E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs145730800
rs145730800 		1.000 0.120 16 89283963 missense variant G/A snv 5.2E-05 1.4E-04
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2353033
rs2353033 		1.000 0.040 16 89319153 intron variant C/T snv 0.51
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2008 2008
dbSNP: rs2353033
rs2353033 		1.000 0.040 16 89319153 intron variant C/T snv 0.51
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs3114908
rs3114908 		16 89317317 intron variant T/C snv 0.68
CUI: C0406208
Disease: Suntan
Suntan 		0.700 1.000 1 2018 2018
dbSNP: rs55637757
rs55637757 		16 89469480 intron variant C/T snv 9.8E-02
CUI: C0406208
Disease: Suntan
Suntan 		0.700 1.000 1 2018 2018
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: rs797044890
rs797044890 		16 89275092 splice donor variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2015 2015
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: 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: 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: rs1114167291
rs1114167291 		0.790 0.280 16 89281225 stop gained C/A snv
CUI: C0020490
Disease: Hyperopia
Hyperopia 		Eye Diseases 0.700 0
dbSNP: rs1114167291
rs1114167291 		0.790 0.280 16 89281225 stop gained C/A snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1114167291
rs1114167291 		0.790 0.280 16 89281225 stop gained C/A snv
CUI: C0004106
Disease: Astigmatism
Astigmatism 		Eye Diseases 0.700 0
dbSNP: rs1114167291
rs1114167291 		0.790 0.280 16 89281225 stop gained C/A snv
CUI: C3494422
Disease: Retrognathia
Retrognathia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1114167291
rs1114167291 		0.790 0.280 16 89281225 stop gained C/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1114167291
rs1114167291 		0.790 0.280 16 89281225 stop gained C/A snv
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.700 0
dbSNP: rs1114167291
rs1114167291 		0.790 0.280 16 89281225 stop gained C/A snv
CUI: C0014877
Disease: Esotropia
Esotropia 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1114167291
rs1114167291 		0.790 0.280 16 89281225 stop gained C/A snv
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 0