TRIM8, tripartite motif containing 8, 81603

N. diseases: 43; N. variants: 1
Source: CLINVAR ×
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: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0002418
Disease: Amblyopia
Amblyopia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C1305740
Disease: Overbite
Overbite 		Stomatognathic Diseases 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0576227
Disease: Narrow foot
Narrow foot 		Musculoskeletal Diseases 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0238210
Disease: Malrotation of kidney
Malrotation of kidney 		0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		Cardiovascular Diseases 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C3693299
Disease: Broad uvula
Broad uvula 		0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0018808
Disease: Heart murmur
Heart murmur 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0016202
Disease: Flatfoot
Flatfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 0
dbSNP: rs866294686
rs866294686 		0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		0.700 0