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: rs587781239
rs587781239 		1.000 0.080 15 25339216 missense variant G/A snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 1998 2017
dbSNP: rs587780581
rs587780581 		1.000 0.080 15 25371479 missense variant T/A snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1998 2016
dbSNP: rs587780582
rs587780582 		1.000 0.080 15 25371404 missense variant A/G;T snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1998 2016
dbSNP: rs587780583
rs587780583 		1.000 0.080 15 25371326 missense variant A/C snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1998 2016
dbSNP: rs587780584
rs587780584 		1.000 0.080 15 25370741 missense variant G/A snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1998 2016
dbSNP: rs587781228
rs587781228 		1.000 0.080 15 25339207 stop gained G/C snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 5 1999 2016
dbSNP: rs587781235
rs587781235 		1.000 0.080 15 25356840 missense variant C/G snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1998 2016
dbSNP: rs587781236
rs587781236 		1.000 0.080 15 25355989 missense variant G/A;C snv 8.0E-06
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1998 2016
dbSNP: rs587781237
rs587781237 		1.000 0.080 15 25354679 missense variant A/C snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1998 2016
dbSNP: rs587781241
rs587781241 		1.000 0.080 15 25371797 missense variant G/T snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1998 2016
dbSNP: rs587781242
rs587781242 		1.000 0.080 15 25370810 missense variant A/G snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1998 2016
dbSNP: rs587781243
rs587781243 		1.000 0.080 15 25370684 missense variant C/G snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1998 2016
dbSNP: rs587781244
rs587781244 		1.000 0.080 15 25356893 missense variant A/C;T snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1998 2016
dbSNP: rs587781233
rs587781233 		1.000 0.080 15 25360443 missense variant C/T snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 1998 2014
dbSNP: rs1064793307
rs1064793307 		1.000 0.080 15 25370598 missense variant G/A snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587780575
rs587780575 		1.000 0.080 15 25371426 stop gained C/A snv
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: rs587780576
rs587780576 		1.000 0.080 15 25371397 stop gained A/T snv
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: rs587780577
rs587780577 		1.000 0.080 15 25405461 start lost A/G snv
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: rs587780578
rs587780578 		1.000 0.080 15 25371814 splice acceptor variant T/A snv
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: rs587780579
rs587780579 		1.000 0.080 15 25356898 splice acceptor variant T/C;G snv
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: rs587780580
rs587780580 		1.000 0.080 15 25354685 splice acceptor variant T/G snv
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: rs587781190
rs587781190 		1.000 0.080 15 25371364 stop gained A/T snv
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: rs587781191
rs587781191 		1.000 0.080 15 25371153 stop gained G/A snv
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: rs587781195
rs587781195 		1.000 0.080 15 25371000 stop gained C/A snv
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: rs587781196
rs587781196 		1.000 0.080 15 25370913 stop gained G/A snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014