Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 59388 single nucleotide variant NM_183415.2(UBE3B):c.1741+2T>C 398123020 MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 12 109947521 109947521 T C 59388 single nucleotide variant NM_183415.2(UBE3B):c.1741+2T>C 398123020 MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 12 109509716 109509716 T C 59389 deletion NM_130466.3(UBE3B):c.2223_2224delAG (p.Arg741Serfs) 398123021 MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 12 109959099 109959100 AG - 59389 deletion NM_130466.3(UBE3B):c.2223_2224delAG (p.Arg741Serfs) 398123021 MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 12 109521294 109521295 AG - 59390 single nucleotide variant NM_130466.3(UBE3B):c.545-2A>G 398123022 MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 12 109927722 109927722 A G 59390 single nucleotide variant NM_130466.3(UBE3B):c.545-2A>G 398123022 MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 12 109489917 109489917 A G 59391 single nucleotide variant NM_130466.3(UBE3B):c.2180A>C (p.Gln727Pro) 398123023 MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 12 109959056 109959056 A C 59391 single nucleotide variant NM_130466.3(UBE3B):c.2180A>C (p.Gln727Pro) 398123023 MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 12 109521251 109521251 A C 166442 single nucleotide variant NM_130466.3(UBE3B):c.1A>G (p.Met1Val) 672601304 MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 12 109483552 109483552 A G 166442 single nucleotide variant NM_130466.3(UBE3B):c.1A>G (p.Met1Val) 672601304 MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 12 109921357 109921357 A G 166443 deletion NM_130466.3(UBE3B):c.1773delC (p.Gln592Serfs) 672601305 MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 12 109510375 109510375 C - 166443 deletion NM_130466.3(UBE3B):c.1773delC (p.Gln592Serfs) 672601305 MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707 12 109948180 109948180 C - 189083 deletion NM_130466.3(UBE3B):c.1689_1691delCTC (p.Ser565del) 786205621 MedGen:CN221809 12 109947467 109947469 CTC - 189083 deletion NM_130466.3(UBE3B):c.1689_1691delCTC (p.Ser565del) 786205621 MedGen:CN221809 12 109509662 109509664 CTC - 205272 single nucleotide variant NM_130466.3(UBE3B):c.2990G>C (p.Arg997Pro) 539407162 MeSH:D030342,MedGen:C0950123 12 109971338 109971338 G C 205272 single nucleotide variant NM_130466.3(UBE3B):c.2990G>C (p.Arg997Pro) 539407162 MeSH:D030342,MedGen:C0950123 12 109533533 109533533 G C 215441 single nucleotide variant NM_130466.3(UBE3B):c.447+5C>A 185361641 MedGen:CN169374 12 109924385 109924385 C A 215441 single nucleotide variant NM_130466.3(UBE3B):c.447+5C>A 185361641 MedGen:CN169374 12 109486580 109486580 C A 226931 single nucleotide variant NM_130466.3(UBE3B):c.61G>T (p.Glu21Ter) 775981553 MeSH:D030342,MedGen:C0950123 12 109483612 109483612 G T 226931 single nucleotide variant NM_130466.3(UBE3B):c.61G>T (p.Glu21Ter) 775981553 MeSH:D030342,MedGen:C0950123 12 109921417 109921417 G T 264457 deletion NM_130466.3(UBE3B):c.256delC (p.Leu86Tyrfs) 886041887 MedGen:CN221809 12 109921760 109921760 C - 264457 deletion NM_130466.3(UBE3B):c.256delC (p.Leu86Tyrfs) 886041887 MedGen:CN221809 12 109483955 109483955 C - 264495 single nucleotide variant NM_130466.3(UBE3B):c.941-1G>A 886041886 MedGen:CN221809 12 109937437 109937437 G A 264495 single nucleotide variant NM_130466.3(UBE3B):c.941-1G>A 886041886 MedGen:CN221809 12 109499632 109499632 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 12 109923138 rs11066856 C G rs11066856 2.10E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 12 109930905 rs7311488 C G rs7311488 4.54E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 12 109930905 rs7311488 C G rs7311488 2.50E-05 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 12 109931594 rs2287192 G A rs2287192 3.84E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 12 109931594 rs2287192 G A rs2287192 8.30E-06 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 12 109937534 rs7298565 G A rs7298565 3.39E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A missense GWASdb_trait 12 109937534 rs7298565 G A rs7298565 0.00000198 Cholesterol, total HPOID:0003107 DOID:3393|DOID:3146|DOID:2349 A missense GWASdb_trait 12 109937534 rs7298565 G A rs7298565 0.00028 Breast cancer HPOID:0003002 DOID:1612 A missense GWASdb_trait 12 109937534 rs7298565 G A rs7298565 6.93E-05 Neuroblastoma HPOID:0003006 DOID:769 A missense GWASdb_trait 12 109955317 rs11067030 C T rs11067030 3.94E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 12 109955317 rs11067030 C T rs11067030 6.70E-06 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 12 109965006 rs11609871 C G rs11609871 4.12E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 12 109968848 rs2241206 T C rs2241206 3.00E-04 Lipid levels HPOID:0003119 DOID:3146|DOID:1287|DOID:9970 A intron GWASdb_trait 12 109970105 rs1078424 G A rs1078424 7.46E-45 Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000151148.13 UBE3B 608047