Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 226915 single nucleotide variant NM_018847.3(KLHL9):c.963T>A (p.Asp321Glu) 869312950 MeSH:D030342,MedGen:C0950123 9 21333896 21333896 A T 226915 single nucleotide variant NM_018847.3(KLHL9):c.963T>A (p.Asp321Glu) 869312950 MeSH:D030342,MedGen:C0950123 9 21333897 21333897 A T

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000198642.6 KLHL9 611201