Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797046101
rs797046101
WDR45
0.010 GeneticVariation BEFREE Whole-exome sequencing revealed a de novo, heterozygous deleterious mutation c.400C>T (p.R13X) in WDR45, previously reported to be disease-causing and associated with early childhood global developmental delay and seizures other than epileptic spasms. 26609730

2015