UBE3B, ubiquitin protein ligase E3B, 89910

N. diseases: 119; N. variants: 12
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: rs398123023
rs398123023 		1.000 0.280 12 109521251 missense variant A/C snv
CUI: C1855663
Disease: Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2012 2012
dbSNP: rs1304422857
rs1304422857 		1.000 12 109511304 splice donor variant G/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 8 2003 2018
dbSNP: rs1304422857
rs1304422857 		1.000 12 109511304 splice donor variant G/A;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2003 2018
dbSNP: rs1304422857
rs1304422857 		1.000 12 109511304 splice donor variant G/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 8 2003 2018
dbSNP: rs2241208
rs2241208 		12 109524990 intron variant G/C snv 0.57
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 3 2015 2019
dbSNP: rs10744826
rs10744826 		12 109527707 intron variant C/G snv 0.57
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 2 2018 2019
dbSNP: rs2241210
rs2241210 		12 109512339 intron variant A/G snv 0.57
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 2 2017 2019
dbSNP: rs10744826
rs10744826 		12 109527707 intron variant C/G snv 0.57
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs10744826
rs10744826 		12 109527707 intron variant C/G snv 0.57
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1078424
rs1078424 		12 109532300 intron variant G/A snv 9.1E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2241208
rs2241208 		12 109524990 intron variant G/C snv 0.57
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2241212
rs2241212 		12 109501836 intron variant T/A snv 0.57
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1555269815
rs1555269815 		1.000 0.280 12 109524504 splice donor variant G/A snv
CUI: C1855663
Disease: Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398123020
rs398123020 		1.000 0.280 12 109509716 splice donor variant T/C snv
CUI: C1855663
Disease: Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398123021
rs398123021 		1.000 0.280 12 109521290 frameshift variant AG/- delins
CUI: C1855663
Disease: Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398123022
rs398123022 		1.000 0.280 12 109489917 splice acceptor variant A/G snv
CUI: C1855663
Disease: Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs539407162
rs539407162 		1.000 0.280 12 109533533 missense variant G/A;C snv 4.0E-06
CUI: C1855663
Disease: Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0