Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 40050 single nucleotide variant NM_014797.2(ZBTB24):c.958C>T (p.Arg320Ter) 387907104 MedGen:C3279748,OMIM:614069 6 109798128 109798128 G A 40050 single nucleotide variant NM_014797.2(ZBTB24):c.958C>T (p.Arg320Ter) 387907104 MedGen:C3279748,OMIM:614069 6 109476925 109476925 G A 40051 single nucleotide variant ZBTB24, SER16TER -1 MedGen:C3279748,OMIM:614069 na -1 -1 na na 40052 undetermined variant ZBTB24, SER278TER -1 MedGen:C3279748,OMIM:614069 na -1 -1 na na 40053 single nucleotide variant NM_014797.2(ZBTB24):c.1222T>G (p.Cys408Gly) 387907105 MedGen:C3279748,OMIM:614069 6 109796668 109796668 A C 40053 single nucleotide variant NM_014797.2(ZBTB24):c.1222T>G (p.Cys408Gly) 387907105 MedGen:C3279748,OMIM:614069 6 109475465 109475465 A C 40054 single nucleotide variant NM_014797.2(ZBTB24):c.1369C>T (p.Arg457Ter) 387907106 MedGen:C3279748,OMIM:614069 6 109788857 109788857 G A 40054 single nucleotide variant NM_014797.2(ZBTB24):c.1369C>T (p.Arg457Ter) 387907106 MedGen:C3279748,OMIM:614069 6 109467654 109467654 G A 48678 deletion ZBTB24, 2-BP DEL, 396TA -1 MedGen:C3279748,OMIM:614069 na -1 -1 na na 246994 single nucleotide variant NM_014797.2(ZBTB24):c.341A>G (p.Gln114Arg) 879255402 MedGen:CN169374 6 109481686 109481686 T C 246994 single nucleotide variant NM_014797.2(ZBTB24):c.341A>G (p.Gln114Arg) 879255402 MedGen:CN169374 6 109802889 109802889 T C 246995 single nucleotide variant NM_014797.2(ZBTB24):c.146G>A (p.Arg49Gln) 147441359 MedGen:CN169374 6 109481881 109481881 C T 246995 single nucleotide variant NM_014797.2(ZBTB24):c.146G>A (p.Arg49Gln) 147441359 MedGen:CN169374 6 109803084 109803084 C T

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 6 109783941 rs1046943 A G rs1046943 3.00E-08 Height HPOID:0000002 NA C UTR-3 GWASdb_trait 6 109786980 rs3734652 T C rs3734652 6.20E-05 Tooth agenesis (mandibular third molar) HPOID:0001592 DOID:0050591 C UTR-3 GWASdb_trait 6 109797304 rs2236084 A G rs2236084 6.20E-05 Tooth agenesis (mandibular third molar) HPOID:0001592 DOID:0050591 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000112365.4 ZBTB24 614064