Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
22q13.3 Deletion Syndrome
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
0.010 GeneticVariation BEFREE Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism. 30308089 2018