Gene: SNHG14 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555391286
rs1555391286
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. 2309781

1990
dbSNP: rs587781196
rs587781196
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. 2309781

1990
dbSNP: rs587781233
rs587781233
UBE3A ; SNHG14
T 0.700 GeneticVariation CLINVAR Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. 2309781

1990
dbSNP: rs1555391286
rs1555391286
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR UBE3A/E6-AP mutations cause Angelman syndrome. 8988171

1997
dbSNP: rs587781196
rs587781196
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR UBE3A/E6-AP mutations cause Angelman syndrome. 8988171

1997
dbSNP: rs587781233
rs587781233
UBE3A ; SNHG14
T 0.700 GeneticVariation CLINVAR UBE3A/E6-AP mutations cause Angelman syndrome. 8988171

1997
dbSNP: rs1555391286
rs1555391286
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein. 15263005

2004
dbSNP: rs587781196
rs587781196
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein. 15263005

2004
dbSNP: rs587781233
rs587781233
UBE3A ; SNHG14
T 0.700 GeneticVariation CLINVAR Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein. 15263005

2004
dbSNP: rs1555391286
rs1555391286
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR Angelman syndrome 2005: updated consensus for diagnostic criteria. 16470747

2006
dbSNP: rs587781196
rs587781196
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR Angelman syndrome 2005: updated consensus for diagnostic criteria. 16470747

2006
dbSNP: rs587781233
rs587781233
UBE3A ; SNHG14
T 0.700 GeneticVariation CLINVAR Angelman syndrome 2005: updated consensus for diagnostic criteria. 16470747

2006
dbSNP: rs1555391286
rs1555391286
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. 17940072

2008
dbSNP: rs1555391286
rs1555391286
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR Are there distinctive sleep problems in Angelman syndrome? 17765640

2008
dbSNP: rs587781196
rs587781196
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR Are there distinctive sleep problems in Angelman syndrome? 17765640

2008
dbSNP: rs587781196
rs587781196
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. 17940072

2008
dbSNP: rs587781233
rs587781233
UBE3A ; SNHG14
T 0.700 GeneticVariation CLINVAR Are there distinctive sleep problems in Angelman syndrome? 17765640

2008
dbSNP: rs587781233
rs587781233
UBE3A ; SNHG14
T 0.700 GeneticVariation CLINVAR The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. 17940072

2008
dbSNP: rs1555391286
rs1555391286
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. 19213023

2009
dbSNP: rs587781196
rs587781196
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. 19213023

2009
dbSNP: rs587781233
rs587781233
UBE3A ; SNHG14
T 0.700 GeneticVariation CLINVAR Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. 19213023

2009
dbSNP: rs1555391286
rs1555391286
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR Molecular and Clinical Aspects of Angelman Syndrome. 22670133

2012
dbSNP: rs587781196
rs587781196
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR Molecular and Clinical Aspects of Angelman Syndrome. 22670133

2012
dbSNP: rs587781233
rs587781233
UBE3A ; SNHG14
T 0.700 GeneticVariation CLINVAR Molecular and Clinical Aspects of Angelman Syndrome. 22670133

2012
dbSNP: rs1555391286
rs1555391286
UBE3A ; SNHG14
A 0.700 CausalMutation CLINVAR Angelman syndrome: review of clinical and molecular aspects. 24876791

2014