Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 106728 single nucleotide variant NM_018031.4(WDR6):c.2047T>G (p.Cys683Gly) 483352745 MedGen:CN221809 3 49050924 49050924 T G 106728 single nucleotide variant NM_018031.4(WDR6):c.2047T>G (p.Cys683Gly) 483352745 MedGen:CN221809 3 49013491 49013491 T G

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000178252.17 WDR6 606031