UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
Disease: Angelman Syndrome ×
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: rs587780572
rs587780572 		1.000 0.080 15 25371710 frameshift variant -/A delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587781199
rs587781199 		1.000 0.080 15 25370758 frameshift variant -/A delins 4.0E-06
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587781206
rs587781206 		1.000 0.080 15 25360467 frameshift variant -/A delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs797046088
rs797046088 		1.000 0.080 15 25339148 frameshift variant -/A delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587781207
rs587781207 		1.000 0.080 15 25360433 frameshift variant -/AACA delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1555379800
rs1555379800 		1.000 0.080 15 25339188 frameshift variant -/AAGTT delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587781215
rs587781215 		1.000 0.080 15 25354645 frameshift variant -/AATA ins 4.0E-06
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587781222
rs587781222 		1.000 0.080 15 25354395 frameshift variant -/AGTTT delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587781204
rs587781204 		1.000 0.080 15 25370576 frameshift variant -/C delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587781223
rs587781223 		1.000 0.080 15 25354357 frameshift variant -/C delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587781229
rs587781229 		1.000 0.080 15 25339195 frameshift variant -/CTTT delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs797046086
rs797046086 		1.000 0.080 15 25340182 frameshift variant -/CTTT delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587781216
rs587781216 		1.000 0.080 15 25354573 stop gained -/CTTTA delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587780568
rs587780568 		1.000 0.080 15 25375490 frameshift variant -/T delins 4.0E-06
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587780574
rs587780574 		1.000 0.080 15 25371533 frameshift variant -/T delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587781193
rs587781193 		1.000 0.080 15 25371046 stop gained -/T delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587781194
rs587781194 		1.000 0.080 15 25371037 frameshift variant -/T delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587781205
rs587781205 		1.000 0.080 15 25360504 frameshift variant -/T delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587781212
rs587781212 		1.000 0.080 15 25355998 frameshift variant -/T delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs797046085
rs797046085 		1.000 0.080 15 25354569 frameshift variant -/T delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797046087
rs797046087 		1.000 0.080 15 25339193 frameshift variant -/T delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587781240
rs587781240 		1.000 0.080 15 25339188 protein altering variant -/TAAGTTTTTCTTTGCTTGAGT delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587781230
rs587781230 		1.000 0.080 15 25339189 frameshift variant -/TAAGTTTTTCTTTGCTTGAGTATTCCGGAAGTAAAAGCACATTA delins 4.0E-06
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555379745
rs1555379745 		1.000 0.080 15 25339174 stop gained -/TCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAGTATTCCGGAAGTAAAAGCACATTA delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587780566
rs587780566 		1.000 0.080 15 25375563 frameshift variant -/TCTT delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014