Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781237
rs587781237
0.800 GeneticVariation UNIPROT Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. 27467454

2016

dbSNP: rs587781237
rs587781237
0.800 GeneticVariation UNIPROT Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. 25782669

2015

dbSNP: rs587781237
rs587781237
0.800 GeneticVariation UNIPROT Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs587781237
rs587781237
C 0.800 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744

2014

dbSNP: rs587781237
rs587781237
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013

dbSNP: rs587781237
rs587781237
0.800 GeneticVariation UNIPROT Mutation analysis of UBE3A in Angelman syndrome patients. 9585605

1998