Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 28415 single nucleotide variant NM_006006.4(ZBTB16):c.1849A>G (p.Met617Val) 121434606 MedGen:C2676231,OMIM:612447 11 114121104 114121104 A G 28415 single nucleotide variant NM_006006.4(ZBTB16):c.1849A>G (p.Met617Val) 121434606 MedGen:C2676231,OMIM:612447 11 114250382 114250382 A G

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 11 113957880 rs2606724 G A rs2606724 2.00E-04 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 C intron GWASdb_drug 11 113975446 rs238924 A G rs238924 2.68E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 T intron GWASdb_drug 11 114023016 rs12293744 C T rs12293744 5.23E-05 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 C intron GWASdb_drug 11 114023946 rs11214881 T C rs11214881 7.66E-06 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 T intron GWASdb_drug 11 114063362 rs589916 G T rs589916 9.90E-04 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 C intron GWASdb_drug 11 114092582 rs573264 A G rs573264 4.77E-04 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 C intron GWASdb_drug 11 113940469 rs3018331 C A rs3018331 7.84E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 11 113945609 rs1672692 G A rs1672692 3.52E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 G intron GWASdb_trait 11 113949232 rs1784692 T C rs1784692 6.43E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 A intron GWASdb_trait 11 113957880 rs2606724 G A rs2606724 2.00E-04 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 C intron GWASdb_trait 11 113961762 rs17116334 C T rs17116334 9.00E-06 Conduct disorder (interaction) HPOID:0100851 DOID:12995 C intron GWASdb_trait 11 113969669 rs10488697 A G rs10488697 2.20E-05 Homocysteine levels, in plasma HPOID:0010919 DOID:1936|DOID:3393 T intron GWASdb_trait 11 113969669 rs10488697 A G rs10488697 6.51E-06 Blood Pressure HPOID:0011025 DOID:10763 T intron GWASdb_trait 11 113975446 rs238924 A G rs238924 2.68E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 T intron GWASdb_trait 11 113981241 rs17116384 A G rs17116384 1.77E-04 Sudden cardiac arrest HPOID:0001645 DOID:3393 A intron GWASdb_trait 11 113984489 rs238913 A G rs238913 1.25E-05 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 11 113984489 rs238913 A G rs238913 8.05E-05 Sudden cardiac arrest HPOID:0001645 DOID:3393 C intron GWASdb_trait 11 113984975 rs2073844 A G rs2073844 8.08E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 11 113984975 rs2073844 A G rs2073844 5.19E-05 Potassium levels HPOID:0001627|HPOID:0000822|HPOID:0011042 DOID:10763|DOID:114 T intron GWASdb_trait 11 113986879 rs238910 A G rs238910 3.66E-05 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 11 113990717 rs238899 T C rs238899 7.83E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 11 113994044 rs238898 C G rs238898 1.52E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 11 113994044 rs238898 C G rs238898 5.75E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 11 113994374 rs238897 A G rs238897 5.29E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 11 113994505 rs238896 G A rs238896 6.48E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 11 113997675 rs2735207 C T rs2735207 1.15E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 11 113997994 rs238889 T C rs238889 6.40E-05 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 11 113998602 rs238887 C G rs238887 8.66E-05 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 11 114000727 rs926075 C T rs926075 7.34E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 11 114003347 rs10488696 G A rs10488696 8.46E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 11 114004128 rs12278218 C T rs12278218 8.70E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 11 114007713 rs717676 G T rs717676 2.45E-04 Bicuspid aortic valve HPOID:0001724|HPOID:0001647|HPOID:0001682 DOID:1682 G intron GWASdb_trait 11 114023016 rs12293744 C T rs12293744 5.23E-05 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 C intron GWASdb_trait 11 114023016 rs12293744 C T rs12293744 0.0004 Normoxic and mild-hypoxic adaptation in populations residing at low and moderate altitudes HPOID:0002795 DOID:2841|DOID:3083 C intron GWASdb_trait 11 114023864 rs485550 C T rs485550 9.84E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 11 114023946 rs11214881 T C rs11214881 7.66E-06 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 T intron GWASdb_trait 11 114023946 rs11214881 T C rs11214881 0.0004 Normoxic and mild-hypoxic adaptation in populations residing at low and moderate altitudes HPOID:0002795 DOID:2841|DOID:3083 T intron GWASdb_trait 11 114028774 rs622200 T C rs622200 2.31E-04 Schizophrenia HPOID:0100753 DOID:5419 A intron GWASdb_trait 11 114037061 rs1184748 A G rs1184748 2.91E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 11 114037158 rs513039 G A rs513039 9.02E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 11 114038866 rs672849 C T rs672849 8.47E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 11 114038866 rs672849 C T rs672849 1.49E-05 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 11 114039225 rs686989 G A rs686989 9.09E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 11 114039225 rs686989 G A rs686989 2.68E-06 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 11 114045560 rs500629 C A rs500629 3.62E-05 Male-pattern baldness HPOID:0001596 DOID:987 T intron GWASdb_trait 11 114051904 rs2073848 T C rs2073848 2.00E-04 Schizophrenia HPOID:0100753 DOID:5419 A intron GWASdb_trait 11 114066438 rs3782007 G A rs3782007 6.89E-04 Schizophrenia HPOID:0100753 DOID:5419 C intron GWASdb_trait 11 114072875 rs3782000 C T rs3782000 1.84E-07 Autism HPOID:0000717 DOID:0060041 G intron GWASdb_trait 11 114074681 rs583647 G A rs583647 4.70E-05 Lung function (forced expiratory volume in 1 second) HPOID:0002088 DOID:850 C intron GWASdb_trait 11 114074756 rs583200 C T rs583200 3.09E-04 Lung function (forced expiratory volume in 1 second) HPOID:0002088 DOID:850 A intron GWASdb_trait 11 114076935 rs12273315 G A rs12273315 3.08E-04 Tourette syndrome HPOID:0000709 DOID:11119|DOID:10933|DOID:1094 G intron GWASdb_trait 11 114081271 rs405388 G A rs405388 4.07E-05 Glucose levels HPOID:0000819 DOID:9352 C intron GWASdb_trait 11 114084859 rs549427 G A rs549427 3.88E-04 Nicotine smoking HPOID:0000707 DOID:0050742 C intron GWASdb_trait 11 114087467 rs397461 C T rs397461 2.42E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 G intron GWASdb_trait 11 114087577 rs424337 C G rs424337 7.27E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 11 114089435 rs375620 T A rs375620 2.58E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 11 114092582 rs573264 A G rs573264 4.77E-04 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 C intron GWASdb_trait 11 114093055 rs3781990 C T rs3781990 7.80E-06 Crohn's disease HPOID:0100280 DOID:8778 G intron GWASdb_trait 11 114103913 rs382312 C T rs382312 3.61E-05 Coronary heart disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 11 114112013 rs387301 G A rs387301 2.16E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000109906.13 ZBTB16 176797