Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 188893 single nucleotide variant NM_019613.3(WDR45B):c.673C>T (p.Arg225Ter) 786205510 MedGen:CN221809 17 80576950 80576950 G A 188893 single nucleotide variant NM_019613.3(WDR45B):c.673C>T (p.Arg225Ter) 786205510 MedGen:CN221809 17 82619074 82619074 G A

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000141580.15 WDR45B 609226