Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555391286
rs1555391286
A 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs587781196
rs587781196
A 0.700 CausalMutation CLINVAR Angelman syndrome: review of clinical and molecular aspects. 24876791

2014

dbSNP: rs587781196
rs587781196
A 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs587781233
rs587781233
T 0.700 GeneticVariation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs587781233
rs587781233
T 0.700 GeneticVariation CLINVAR Angelman syndrome: review of clinical and molecular aspects. 24876791

2014

dbSNP: rs1555391286
rs1555391286
A 0.700 CausalMutation CLINVAR The neurobehavioral and molecular phenotype of Angelman Syndrome. 26219744

2015

dbSNP: rs1555391286
rs1555391286
A 0.700 CausalMutation CLINVAR 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. 25884337

2015

dbSNP: rs587781196
rs587781196
A 0.700 CausalMutation CLINVAR 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. 25884337

2015

dbSNP: rs587781196
rs587781196
A 0.700 CausalMutation CLINVAR The neurobehavioral and molecular phenotype of Angelman Syndrome. 26219744

2015

dbSNP: rs587781233
rs587781233
T 0.700 GeneticVariation CLINVAR 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. 25884337

2015

dbSNP: rs587781233
rs587781233
T 0.700 GeneticVariation CLINVAR The neurobehavioral and molecular phenotype of Angelman Syndrome. 26219744

2015