USP7, ubiquitin specific peptidase 7, 7874

N. diseases: 153; N. variants: 7
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: rs111792818
rs111792818 		16 8965384 intron variant T/A snv 0.10
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs141361914
rs141361914 		16 8941610 intron variant C/T snv 4.6E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs166232
rs166232 		16 8941527 intron variant T/C snv 0.62
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs183725
rs183725 		16 8954178 intron variant T/A;C;G snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs7190551
rs7190551 		16 8938158 intron variant G/A;T snv
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C4021650
Disease: Short third metatarsal
Short third metatarsal 		0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C1848514
Disease: Short fourth metatarsal
Short fourth metatarsal 		0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		Respiratory Tract Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0027066
Disease: Myoclonus
Myoclonus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C4023802
Disease: Hyperextensibility of the knee
Hyperextensibility of the knee 		0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555462347
rs1555462347 		0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0