Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 189177 single nucleotide variant NM_001282684.1(KCTD17):c.434G>A (p.Arg145His) 786205860 MedGen:CN230764,OMIM:616398 22 37453460 37453460 G A 189177 single nucleotide variant NM_001282684.1(KCTD17):c.434G>A (p.Arg145His) 786205860 MedGen:CN230764,OMIM:616398 22 37057420 37057420 G A

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 22 37453256 rs2235320 G T rs2235320 1.00E-13 Mean corpuscular volume HPOID:0001877 DOID:74 G intron GWASdb_trait 22 37453256 rs2235320 G T rs2235320 7.00E-17 Mean corpuscular hemoglobin HPOID:0011902 DOID:74 G intron GWASdb_trait 22 37453256 rs2235320 G T rs2235320 2.84E-08 Red blood cell traits HPOID:0001877 DOID:74 G intron GWASdb_trait 22 37453256 rs2235320 G T rs2235320 3.29E-04 Iron levels HPOID:0011031 DOID:2351 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000100379.17 KCTD17 616386