Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 143128 single nucleotide variant NM_001164342.2(ZBTB20):c.1768A>C (p.Lys590Gln) 483353064 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114069157 114069157 T G 143128 single nucleotide variant NM_001164342.2(ZBTB20):c.1768A>C (p.Lys590Gln) 483353064 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114350310 114350310 T G 143129 single nucleotide variant NM_001164342.2(ZBTB20):c.1771C>G (p.Gln591Glu) 483353065 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114069154 114069154 G C 143129 single nucleotide variant NM_001164342.2(ZBTB20):c.1771C>G (p.Gln591Glu) 483353065 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114350307 114350307 G C 143130 single nucleotide variant NM_001164342.2(ZBTB20):c.1787A>G (p.His596Arg) 483353066 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114069138 114069138 T C 143130 single nucleotide variant NM_001164342.2(ZBTB20):c.1787A>G (p.His596Arg) 483353066 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114350291 114350291 T C 143138 single nucleotide variant NM_001164342.2(ZBTB20):c.1802C>T (p.Thr601Ile) 483353067 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114069123 114069123 G A 143138 single nucleotide variant NM_001164342.2(ZBTB20):c.1802C>T (p.Thr601Ile) 483353067 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114350276 114350276 G A 143139 single nucleotide variant NM_001164342.2(ZBTB20):c.1805G>C (p.Gly602Ala) 483353068 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114058273 114058273 C G 143139 single nucleotide variant NM_001164342.2(ZBTB20):c.1805G>C (p.Gly602Ala) 483353068 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114339426 114339426 C G 143140 single nucleotide variant NM_001164342.2(ZBTB20):c.1811A>C (p.Lys604Thr) 483353069 MeSH:D030342,MedGen:C0950123;MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114058267 114058267 T G 143140 single nucleotide variant NM_001164342.2(ZBTB20):c.1811A>C (p.Lys604Thr) 483353069 MeSH:D030342,MedGen:C0950123;MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114339420 114339420 T G 143141 single nucleotide variant NM_001164342.2(ZBTB20):c.1861C>T (p.Leu621Phe) 483353070 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114058217 114058217 G A 143141 single nucleotide variant NM_001164342.2(ZBTB20):c.1861C>T (p.Leu621Phe) 483353070 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114339370 114339370 G A 143142 single nucleotide variant NM_001164342.2(ZBTB20):c.1876G>A (p.Val626Met) 483353063 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114058202 114058202 C T 143142 single nucleotide variant NM_001164342.2(ZBTB20):c.1876G>A (p.Val626Met) 483353063 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114339355 114339355 C T 215267 single nucleotide variant NM_001164343.2(ZBTB20):c.945C>G (p.Asp315Glu) 144663365 MedGen:CN169374 3 114069761 114069761 G C 215267 single nucleotide variant NM_001164343.2(ZBTB20):c.945C>G (p.Asp315Glu) 144663365 MedGen:CN169374 3 114350914 114350914 G C 247522 single nucleotide variant NM_001164342.2(ZBTB20):c.2221G>A (p.Gly741Arg) 150263896 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114057857 114057857 C T 247522 single nucleotide variant NM_001164342.2(ZBTB20):c.2221G>A (p.Gly741Arg) 150263896 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114339010 114339010 C T 247523 single nucleotide variant NM_001164342.2(ZBTB20):c.1847C>T (p.Ser616Phe) 879255635 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114058231 114058231 G A 247523 single nucleotide variant NM_001164342.2(ZBTB20):c.1847C>T (p.Ser616Phe) 879255635 MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042 3 114339384 114339384 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 3 114191863 rs10511334 T C rs10511334 2.38E-05 IRON HFE PROTEIN, HUMAN|TRANSFERRIN|HISTOCOMPATIBILITY ANTIGENS CLASS I|MEMBRANE PROTEINS Iron status biomarkers HPOID:0011031 DOID:2351 T intron GWASdb_drug 3 114593970 rs1354056 G A rs1354056 3.37E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 C intron GWASdb_drug 3 114821299 rs2177041 A C rs2177041 4.58E-05 ASPARTIC ACID|GLUTAMIC ACID N-ACETYLASPARTATE|SUMF1 PROTEIN, HUMAN|SULFATASES Multiple sclerosis (brain glutamate levels) HPOID:0000096|HPOID:0001967|HPOID:0100861|HPOID:0004030|HPOID:0002694|HPOID:0005652|HPOID:0009741|HPOID:0008664|HPOID:0005686|HPOID:0004979|HPOID:0100899|HPOID:0002634|HPOID:0003881|HPOID:0005789|HPOID:0001150|HPOID:0100923|HPOID:0003991|HPOID:0003854|HPOID:0100925|HPOID:0005450|HPOID:0006623|HPOID:0003933 DOID:2377 G intron GWASdb_drug 3 114109544 rs17614981 C A rs17614981 5.95E-06 Pulmonary function HPOID:0002795 DOID:2841|DOID:3083 C intron GWASdb_trait 3 114110200 rs17615035 C T rs17615035 2.30E-05 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 3 114110546 rs9859157 C A rs9859157 6.06E-06 Pulmonary function HPOID:0002795 DOID:2841|DOID:3083 C intron GWASdb_trait 3 114110629 rs9859304 C T rs9859304 6.15E-06 Pulmonary function HPOID:0002795 DOID:2841|DOID:3083 T intron GWASdb_trait 3 114112056 rs3957585 G A rs3957585 5.74E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 3 114136969 rs2718419 T G rs2718419 5.19E-04 Common variable immunodeficiency HPOID:0002721 DOID:12177 T intron GWASdb_trait 3 114182433 rs7647708 G A rs7647708 5.34E-08 Metabolite levels HPOID:0001939 DOID:655 A intron GWASdb_trait 3 114191863 rs10511334 T C rs10511334 2.38E-05 Iron status biomarkers HPOID:0011031 DOID:2351 T intron GWASdb_trait 3 114205687 rs2718425 G A rs2718425 3.55E-04 Myopia (pathological) HPOID:0000545 DOID:11830 A intron GWASdb_trait 3 114221822 rs7643975 C T rs7643975 8.34E-05 Polycystic ovary syndrome HPOID:0000147 DOID:11612 T intron GWASdb_trait 3 114257956 rs2669897 C T rs2669897 3.93E-04 Smoking initiation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 3 114280956 rs9831254 T C rs9831254 2.00E-05 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 3 114305702 rs7637678 T C rs7637678 4.69E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 3 114305702 rs7637678 T C rs7637678 1.15E-04 Lung function (forced expiratory flow between 25% and 75% of forced vital capacity) HPOID:0002088 DOID:850 T intron GWASdb_trait 3 114318854 rs1402558 T C rs1402558 4.59E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 3 114319046 rs950992 G A rs950992 1.43E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 3 114325385 rs2947483 A G rs2947483 1.77E-04 Lung function (forced vital capacity) HPOID:0002088 DOID:850 C intron GWASdb_trait 3 114325385 rs2947483 A G rs2947483 6.79E-05 Lung function (forced expiratory volume in 1 second) HPOID:0002088 DOID:850 C intron GWASdb_trait 3 114329961 rs6438213 A G rs6438213 8.73E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 3 114329961 rs6438213 A G rs6438213 2.63E-04 Lung function (forced expiratory flow between 25% and 75% of forced vital capacity) HPOID:0002088 DOID:850 A intron GWASdb_trait 3 114332963 rs10511335 T C rs10511335 1.52E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 3 114335023 rs2669892 T C rs2669892 1.13E-04 Lung function (forced expiratory volume in 1 second) HPOID:0002088 DOID:850 A intron GWASdb_trait 3 114335023 rs2669892 T C rs2669892 3.48E-04 Lung function (forced expiratory flow between 25% and 75% of forced vital capacity) HPOID:0002088 DOID:850 A intron GWASdb_trait 3 114340473 rs1274267 C T rs1274267 4.81E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 3 114341550 rs9860965 C T rs9860965 7.90E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 C intron GWASdb_trait 3 114347164 rs11717204 G A rs11717204 1.27E-04 Lung function (forced vital capacity) HPOID:0002088 DOID:850 G intron GWASdb_trait 3 114362764 rs9841504 C G rs9841504 2.00E-09 Gastric cancer HPOID:0012126 DOID:3717 C intron GWASdb_trait 3 114362764 rs9841504 C G rs9841504 2.33E-08 Schizophrenia HPOID:0100753 DOID:5419 C intron GWASdb_trait 3 114364462 rs1290892 C T rs1290892 7.38E-05 Lung function (forced vital capacity) HPOID:0002088 DOID:850 A intron GWASdb_trait 3 114368193 rs1274261 T A rs1274261 2.60E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 3 114368695 rs2669904 C T rs2669904 4.75E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 3 114401208 rs17681475 C G rs17681475 0.0007702 Sarcoidosis HPOID:0012220 DOID:11335 C intron GWASdb_trait 3 114417343 rs10934276 G T rs10934276 2.52E-04 Glycosylated haemoglobin levels HPOID:0011902|HPOID:0000077|HPOID:0001626|HPOID:0000819|HPOID:0000479 DOID:1287|DOID:9351|DOID:557|DOID:5679 T intron GWASdb_trait 3 114419948 rs6762934 C T rs6762934 6.82E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 3 114485145 rs2056533 C T rs2056533 2.52E-04 Glycosylated haemoglobin levels HPOID:0011902|HPOID:0000077|HPOID:0001626|HPOID:0000819|HPOID:0000479 DOID:1287|DOID:9351|DOID:557|DOID:5679 G intron GWASdb_trait 3 114513019 rs7631872 G A rs7631872 1.28E-04 Lung function (forced expiratory volume in 1 second) HPOID:0002088 DOID:850 G intron GWASdb_trait 3 114548471 rs6804032 C T rs6804032 8.70E-04 Lipid traits HPOID:0003119 DOID:3146|DOID:1287|DOID:9970 C intron GWASdb_trait 3 114556835 rs688357 C T rs688357 3.81E-05 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 3 114593970 rs1354056 G A rs1354056 3.37E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 C intron GWASdb_trait 3 114599103 rs7635846 G A rs7635846 3.71E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 3 114622323 rs4682165 C T rs4682165 2.20E-04 Height HPOID:0000002 NA T intron GWASdb_trait 3 114671715 rs11923714 A G rs11923714 1.19E-04 Birth weight HPOID:0004323 DOID:783|DOID:9352|DOID:1287 G intron GWASdb_trait 3 114702057 rs10804515 A G rs10804515 1.11E-06 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 3 114702057 rs10804515 A G rs10804515 1.00E-06 Height HPOID:0000002 NA A intron GWASdb_trait 3 114793620 rs7648400 T C rs7648400 2.11E-06 Birth weight HPOID:0004323 DOID:783|DOID:9352|DOID:1287 C intron GWASdb_trait 3 114812777 rs6768251 T C rs6768251 1.34E-05 Birth weight HPOID:0004323 DOID:783|DOID:9352|DOID:1287 C intron GWASdb_trait 3 114820006 rs9289008 A G rs9289008 4.93E-06 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 3 114821299 rs2177041 A C rs2177041 4.58E-05 Multiple sclerosis (brain glutamate levels) HPOID:0000096|HPOID:0001967|HPOID:0100861|HPOID:0004030|HPOID:0002694|HPOID:0005652|HPOID:0009741|HPOID:0008664|HPOID:0005686|HPOID:0004979|HPOID:0100899|HPOID:0002634|HPOID:0003881|HPOID:0005789|HPOID:0001150|HPOID:0100923|HPOID:0003991|HPOID:0003854|HPOID:0100925|HPOID:0005450|HPOID:0006623|HPOID:0003933 DOID:2377 G intron GWASdb_trait 3 114855021 rs6793973 T C rs6793973 4.45E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 3 114855021 rs6793973 T C rs6793973 1.24E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000181722.16 ZBTB20 606025