Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 72784 copy number gain GRCh38/hg38 11q24.1(chr11:122596622-122776303)x3 -1 - 11 122467330 122647011 na na 72784 copy number gain GRCh38/hg38 11q24.1(chr11:122596622-122776303)x3 -1 - 11 122596622 122776303 na na 72784 copy number gain GRCh38/hg38 11q24.1(chr11:122596622-122776303)x3 -1 - 11 121972540 122152221 na na

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 122557750 rs11218755 A G rs11218755 2.91E-05 CISPLATIN|CARBOPLATIN NAG PROTEIN, HUMAN|ORGANOPLATINUM COMPOUNDS|NEOPLASM PROTEINS Cisplatin and carboplatin cytotoxicity, in blood cell lines HPOID:0100526|HPOID:0012288|HPOID:0010788 DOID:9256|DOID:11934|DOID:2998|DOID:1324 A intron GWASdb_drug 11 122581725 rs7930792 C G rs7930792 1.56E-04 NICOTINE|BUPROPION NICOTINIC AGONISTS|ANTIDEPRESSIVE AGENTS, SECOND-GENERATION Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_drug 11 122587608 rs11218769 C A rs11218769 1.37E-04 NICOTINE|BUPROPION NICOTINIC AGONISTS|ANTIDEPRESSIVE AGENTS, SECOND-GENERATION Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_drug 11 122589092 rs10736526 T C rs10736526 8.40E-05 GEMCITABINE ANTIMETABOLITES, ANTINEOPLASTIC|INTERLEUKIN-17|DEOXYCYTIDINE|IL17F PROTEIN, HUMAN Response to gemcitabine in pancreatic cancer HPOID:0006725 DOID:1793 T intron GWASdb_drug 11 122591233 rs7932902 T C rs7932902 7.09E-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 T intron GWASdb_drug 11 122641086 rs4936742 T C rs4936742 1.72E-04 NICOTINE|BUPROPION NICOTINIC AGONISTS|ANTIDEPRESSIVE AGENTS, SECOND-GENERATION Smoking cessation HPOID:0000707 DOID:0050742 T intron GWASdb_drug 11 122641086 rs4936742 T C rs4936742 3.80E-04 NICOTINE|BUPROPION NICOTINIC AGONISTS|ANTIDEPRESSIVE AGENTS, SECOND-GENERATION Smoking cessation HPOID:0000707 DOID:0050742 T intron GWASdb_drug 11 122659691 rs2370779 T C rs2370779 3.19E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 A intron GWASdb_drug 11 122677047 rs3819248 T C rs3819248 8.25E-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 122678911 rs2276408 C T rs2276408 4.33E-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 11 122557750 rs11218755 A G rs11218755 2.91E-05 Cisplatin and carboplatin cytotoxicity, in blood cell lines HPOID:0100526|HPOID:0012288|HPOID:0010788 DOID:9256|DOID:11934|DOID:2998|DOID:1324 A intron GWASdb_trait 11 122579404 rs17126767 C T rs17126767 4.31E-05 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 C intron GWASdb_trait 11 122580938 rs7104341 G T rs7104341 2.60E-05 Tuberculosis HPOID:0011275 DOID:399 G intron GWASdb_trait 11 122581725 rs7930792 C G rs7930792 1.56E-04 Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 11 122587608 rs11218769 C A rs11218769 1.37E-04 Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 11 122589092 rs10736526 T C rs10736526 8.40E-05 Response to gemcitabine in pancreatic cancer HPOID:0006725 DOID:1793 T intron GWASdb_trait 11 122591233 rs7932902 T C rs7932902 7.09E-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 T intron GWASdb_trait 11 122607364 rs41507249 A G rs41507249 8.25E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 11 122609280 rs7126299 C T rs7126299 4.85E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 11 122622531 rs4936737 T C rs4936737 2.30E-06 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 11 122641086 rs4936742 T C rs4936742 1.72E-04 Smoking cessation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 11 122641086 rs4936742 T C rs4936742 3.80E-04 Smoking cessation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 11 122641086 rs4936742 T C rs4936742 7.60E-04 Behcet's disease HPOID:0011955 DOID:13241 T intron GWASdb_trait 11 122641086 rs4936742 T C rs4936742 8.00E-04 Behcet's disease HPOID:0011955 DOID:13241 T intron GWASdb_trait 11 122654588 rs12797324 T G rs12797324 5.52E-05 Monocyte chemoattractant protein-1 HPOID:0001513|HPOID:0005978|HPOID:0012144 DOID:9970 T intron GWASdb_trait 11 122659691 rs2370779 T C rs2370779 3.19E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 A intron GWASdb_trait 11 122659918 rs955051 T G rs955051 8.03E-04 Stroke HPOID:0001297 DOID:6713 T cds-synon GWASdb_trait 11 122666790 rs4936746 C T rs4936746 1.81E-05 Waist Circumference HPOID:0001513 DOID:9970 C intron GWASdb_trait 11 122675109 rs12576789 G A rs12576789 5.91E-05 Waist Circumference HPOID:0001513 DOID:9970 G intron GWASdb_trait 11 122677047 rs3819248 T C rs3819248 8.25E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 T intron GWASdb_trait 11 122678728 rs12793476 A G rs12793476 7.14E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 11 122678911 rs2276408 C T rs2276408 4.33E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 C intron GWASdb_trait 11 122684597 rs1945394 T C rs1945394 7.50E-05 Parkinson's disease (familial) HPOID:0001300 DOID:14330 T UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000154127.9 UBASH3B 609201