Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 139346 single nucleotide variant NM_003337.3(UBE2B):c.23G>C (p.Arg8Thr) 367537996 MedGen:CN221809 5 134371618 134371618 G C 139346 single nucleotide variant NM_003337.3(UBE2B):c.23G>C (p.Arg8Thr) 367537996 MedGen:CN221809 5 133707309 133707309 G C

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 5 133725148 rs4958233 T C rs4958233 7.20E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000119048.7 UBE2B 179095