Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 181308 single nucleotide variant NM_001137601.2(ZBTB42):c.1190G>A (p.Arg397His) 730882163 MedGen:CN227921,OMIM:616248 14 104802387 104802387 G A 181308 single nucleotide variant NM_001137601.2(ZBTB42):c.1190G>A (p.Arg397His) 730882163 MedGen:CN227921,OMIM:616248 14 105268724 105268724 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 14 105268228 rs4983387 G A rs4983387 2.91E-05 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 G missense GWASdb_drug 14 105269779 rs3803300 T C rs3803300 1 RISPERIDONE ANTIPSYCHOTIC AGENTS|RECEPTORS, SEROTONIN Drug response to Risperidone NA NA G UTR-3 GWASdb_drug 14 105268228 rs4983387 G A rs4983387 2.91E-05 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 G missense GWASdb_trait 14 105269779 rs3803300 T C rs3803300 1 Drug response to Risperidone NA NA G UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000179627.9 ZBTB42 613915