Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs539982914
rs539982914
0.700 GeneticVariation UNIPROT Novel MCA/ID syndrome with ASH1L mutation. 28394464

2017

dbSNP: rs539982914
rs539982914
0.700 GeneticVariation UNIPROT Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889

2017

dbSNP: rs539982914
rs539982914
0.700 GeneticVariation UNIPROT De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329

2016

dbSNP: rs539982914
rs539982914
0.700 GeneticVariation UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012