Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 204120 single nucleotide variant NM_015902.5(UBR5):c.5837A>G (p.His1946Arg) 796052149 MedGen:C0023976,SNOMED CT:C0023976 8 103293607 103293607 T C 204120 single nucleotide variant NM_015902.5(UBR5):c.5837A>G (p.His1946Arg) 796052149 MedGen:C0023976,SNOMED CT:C0023976 8 102281379 102281379 T C 204121 single nucleotide variant NM_015902.5(UBR5):c.3752G>A (p.Arg1251His) 755753791 MedGen:C0023976,SNOMED CT:C0023976 8 102295696 102295696 C T 204121 single nucleotide variant NM_015902.5(UBR5):c.3752G>A (p.Arg1251His) 755753791 MedGen:C0023976,SNOMED CT:C0023976 8 103307924 103307924 C T 204122 single nucleotide variant NM_015902.5(UBR5):c.2965C>T (p.Arg989Trp) 754562275 MedGen:C0023976,SNOMED CT:C0023976 8 103312369 103312369 G A 204122 single nucleotide variant NM_015902.5(UBR5):c.2965C>T (p.Arg989Trp) 754562275 MedGen:C0023976,SNOMED CT:C0023976 8 102300141 102300141 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 8 103274478 rs16869317 C G rs16869317 4.12E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 8 103356112 rs10481053 A C rs10481053 3.87E-04 Major depressive disorder HPOID:0000716 DOID:1470 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000104517.12 UBR5 608413