ASXL2, ASXL transcriptional regulator 2, 55252

N. diseases: 89; N. variants: 8
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: rs11897652
rs11897652 		2 25767112 intron variant T/C snv 0.67
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs28562485
rs28562485 		2 25776342 intron variant C/T snv 0.25
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs28562485
rs28562485 		2 25776342 intron variant C/T snv 0.25
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0423113
Disease: Telecanthus
Telecanthus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0332573
Disease: Macule
Macule 		0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0241240
Disease: Tall stature
Tall stature 		0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0685707
Disease: Muscular ventricular septum defect
Muscular ventricular septum defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0043094
Disease: Weight Gain
Weight Gain 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		0.700 0
dbSNP: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		0.700 0