Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 223166 copy number gain NC_000004.11:g.68488897_68562395dup73499 -1 MedGen:C1527349 4 68488897 68562395 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 4 68531603 rs13151552 A C rs13151552 4.81E-05 NICOTINE|BUPROPION NICOTINIC AGONISTS|ANTIDEPRESSIVE AGENTS, SECOND-GENERATION Smoking cessation HPOID:0000707 DOID:0050742 A intron GWASdb_drug 4 68515155 rs354872 T C rs354872 5.27E-05 stroke (ischemic) HPOID:0002140 DOID:6713 C intron GWASdb_trait 4 68531603 rs13151552 A C rs13151552 4.81E-05 Smoking cessation HPOID:0000707 DOID:0050742 A intron GWASdb_trait 4 68531603 rs13151552 A C rs13151552 3.63E-05 Tuberculosis HPOID:0011275 DOID:399 A intron GWASdb_trait 4 68534392 rs10010188 C T rs10010188 4.92E-06 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 C missense GWASdb_trait 4 68536966 rs2170872 C T rs2170872 1.20E-05 Blood Pressure HPOID:0011025 DOID:10763 A intron GWASdb_trait 4 68536966 rs2170872 C T rs2170872 7.84E-06 Lung function (forced expiratory volume in 1 second) HPOID:0002088 DOID:850 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000033178.12 UBA6 611361