Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 139349 single nucleotide variant NM_017588.2(WDR5):c.19A>C (p.Lys7Gln) 367537994 MedGen:CN221809 9 137005018 137005018 A C 139349 single nucleotide variant NM_017588.2(WDR5):c.19A>C (p.Lys7Gln) 367537994 MedGen:CN221809 9 134139896 134139896 A C

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000196363.9 WDR5 609012