Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 360495 single nucleotide variant NM_182688.2(UBE2G2):c.246G>A (p.Trp82Ter) 1057518338 MedGen:CN169374 21 44773602 44773602 C T 360495 single nucleotide variant NM_182688.2(UBE2G2):c.246G>A (p.Trp82Ter) 1057518338 MedGen:CN169374 21 46193517 46193517 C T

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 21 46204235 rs1368991 G T rs1368991 2.63E-05 Waist Circumference HPOID:0001513 DOID:9970 C intron GWASdb_trait 21 46204511 rs2838684 A G rs2838684 6.20E-04 Type 2 diabetes and 6 quantitative traits HPOID:0005978 DOID:9352 A intron GWASdb_trait 21 46220610 rs2838689 T C rs2838689 6.27E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 21 46221167 rs1141 T C rs1141 7.18E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000184787.18 UBE2G2 603124