UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
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: 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: 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: rs587781231
rs587781231
1.000 0.080 15 25339188 frameshift variant TT/- delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2001 2014
dbSNP: rs863225068
rs863225068
1.000 0.080 15 25370698 frameshift variant ATAAT/- delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2004 2009
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: rs1555379684
rs1555379684
1.000 0.080 15 25339142 frameshift variant GCATGCCAAATCCTTTGGCATACGTGATGGCCTTCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAG/- del
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: 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: rs398124440
rs398124440
1.000 0.080 15 25339190 stop gained AAGT/-;AAGTAAGT 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: rs587780565
rs587780565
1.000 0.080 15 25375667 frameshift variant G/- 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
dbSNP: rs587780567
rs587780567
1.000 0.080 15 25375502 frameshift variant AT/- 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: rs587780569
rs587780569
1.000 0.080 15 25375486 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