Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519062
rs1057519062
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064792950
rs1064792950
C 0.700 CausalMutation CLINVAR

dbSNP: rs1064793307
rs1064793307
A 0.700 GeneticVariation CLINVAR An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A. 26255772

2015

dbSNP: rs1064795012
rs1064795012
T 0.700 GeneticVariation CLINVAR

dbSNP: rs111033594
rs111033594
A 0.700 CausalMutation CLINVAR

dbSNP: rs111033595
rs111033595
T 0.700 CausalMutation CLINVAR

dbSNP: rs111033596
rs111033596
G 0.700 CausalMutation CLINVAR

dbSNP: rs111033597
rs111033597
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555379684
rs1555379684
A 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs1555379745
rs1555379745
TTCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAGTATTCCGGAAGTAAAAGCACATTA 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs1555379800
rs1555379800
TTTAAG 0.700 CausalMutation CLINVAR

dbSNP: rs1555393242
rs1555393242
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1566954070
rs1566954070
A 0.700 CausalMutation CLINVAR

dbSNP: rs1566959617
rs1566959617
G 0.700 GeneticVariation CLINVAR

dbSNP: rs398124440
rs398124440
TTAAG 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs587780565
rs587780565
A 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs587780566
rs587780566
CCTTT 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs587780567
rs587780567
T 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs587780568
rs587780568
CT 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs587780569
rs587780569
C 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs587780570
rs587780570
T 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs587780571
rs587780571
C 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs587780572
rs587780572
GA 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs587780573
rs587780573
T 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs587780574
rs587780574
CT 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014