Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225068
rs863225068
C 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: rs863225068
rs863225068
C 0.700 CausalMutation CLINVAR Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS. 14981718

2004