Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781231
rs587781231
UBE3A ; SNHG14
C 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014
dbSNP: rs587781231
rs587781231
UBE3A ; SNHG14
C 0.700 CausalMutation CLINVAR A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree. 20034088

2010
dbSNP: rs587781231
rs587781231
UBE3A ; SNHG14
C 0.700 CausalMutation CLINVAR Distinct phenotypes distinguish the molecular classes of Angelman syndrome. 11748306

2001