Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 19717 single nucleotide variant NM_174916.2(UBR1):c.407A>G (p.His136Arg) 119477054 MedGen:C0175692,OMIM:243800,SNOMED CT:C0175692 15 43374846 43374846 T C 19717 single nucleotide variant NM_174916.2(UBR1):c.407A>G (p.His136Arg) 119477054 MedGen:C0175692,OMIM:243800,SNOMED CT:C0175692 15 43082648 43082648 T C 19718 single nucleotide variant UBR1, IVS20DS, T-C, +2 -1 MedGen:C0175692,OMIM:243800,SNOMED CT:C0175692 na -1 -1 na na 19719 single nucleotide variant NM_174916.2(UBR1):c.1537C>T (p.Gln513Ter) 119477055 MedGen:C0175692,OMIM:243800,SNOMED CT:C0175692 15 43340592 43340592 G A 19719 single nucleotide variant NM_174916.2(UBR1):c.1537C>T (p.Gln513Ter) 119477055 MedGen:C0175692,OMIM:243800,SNOMED CT:C0175692 15 43048394 43048394 G A 19720 single nucleotide variant UBR1, IVS26DS, G-A, +5 -1 MedGen:C0175692,OMIM:243800,SNOMED CT:C0175692 na -1 -1 na na 40574 single nucleotide variant UBR1, IVS12AS, G-A, -1 -1 MedGen:C0175692,OMIM:243800,SNOMED CT:C0175692 na -1 -1 na na 188864 single nucleotide variant NM_174916.2(UBR1):c.1258C>A (p.Gln420Lys) 786205492 MedGen:CN221809 15 43348565 43348565 G T 188864 single nucleotide variant NM_174916.2(UBR1):c.1258C>A (p.Gln420Lys) 786205492 MedGen:CN221809 15 43056367 43056367 G T 205177 single nucleotide variant NM_174916.2(UBR1):c.4107T>A (p.Cys1369Ter) 797045112 MedGen:C0175692,OMIM:243800,SNOMED CT:C0175692 15 43276138 43276138 A T 205177 single nucleotide variant NM_174916.2(UBR1):c.4107T>A (p.Cys1369Ter) 797045112 MedGen:C0175692,OMIM:243800,SNOMED CT:C0175692 15 42983940 42983940 A T 237344 single nucleotide variant NM_174916.2(UBR1):c.3290C>T (p.Thr1097Met) 142285781 MedGen:CN221809 15 43299402 43299402 G A 237344 single nucleotide variant NM_174916.2(UBR1):c.3290C>T (p.Thr1097Met) 142285781 MedGen:CN221809 15 43007204 43007204 G A 255209 single nucleotide variant NM_174916.2(UBR1):c.5205A>G (p.Gln1735=) 16957277 MedGen:CN169374 15 43237572 43237572 T C 255209 single nucleotide variant NM_174916.2(UBR1):c.5205A>G (p.Gln1735=) 16957277 MedGen:CN169374 15 42945374 42945374 T C 255210 single nucleotide variant NM_174916.2(UBR1):c.4803T>C (p.Tyr1601=) 140959617 MedGen:CN169374 15 42958045 42958045 A G 255210 single nucleotide variant NM_174916.2(UBR1):c.4803T>C (p.Tyr1601=) 140959617 MedGen:CN169374 15 43250243 43250243 A G 255211 single nucleotide variant NM_174916.2(UBR1):c.4700+12A>G 2054389 MedGen:CN169374 15 43256121 43256121 T C 255211 single nucleotide variant NM_174916.2(UBR1):c.4700+12A>G 2054389 MedGen:CN169374 15 42963923 42963923 T C 255212 single nucleotide variant NM_174916.2(UBR1):c.4642A>G (p.Thr1548Ala) 3917223 MedGen:CN169374 15 42963993 42963993 T C 255212 single nucleotide variant NM_174916.2(UBR1):c.4642A>G (p.Thr1548Ala) 3917223 MedGen:CN169374 15 43256191 43256191 T C 255213 single nucleotide variant NM_174916.2(UBR1):c.4054-4C>G 138963231 MedGen:CN169374 15 43276195 43276195 G C 255213 single nucleotide variant NM_174916.2(UBR1):c.4054-4C>G 138963231 MedGen:CN169374 15 42983997 42983997 G C 255214 single nucleotide variant NM_174916.2(UBR1):c.2695A>G (p.Ile899Val) 35069201 MedGen:CN169374 15 43317071 43317071 T C 255214 single nucleotide variant NM_174916.2(UBR1):c.2695A>G (p.Ile899Val) 35069201 MedGen:CN169374 15 43024873 43024873 T C 255215 single nucleotide variant NM_174916.2(UBR1):c.862-18C>T 4924704 MedGen:CN169374 15 43059843 43059843 G A 255215 single nucleotide variant NM_174916.2(UBR1):c.862-18C>T 4924704 MedGen:CN169374 15 43352041 43352041 G A 268700 single nucleotide variant NM_174916.2(UBR1):c.3455A>G (p.Tyr1152Cys) 751554684 MedGen:CN169374 15 43296089 43296089 T C 268700 single nucleotide variant NM_174916.2(UBR1):c.3455A>G (p.Tyr1152Cys) 751554684 MedGen:CN169374 15 43003891 43003891 T C 360074 single nucleotide variant NM_174916.2(UBR1):c.1295T>C (p.Ile432Thr) 1057518231 MedGen:CN169374 15 43054886 43054886 A G 360074 single nucleotide variant NM_174916.2(UBR1):c.1295T>C (p.Ile432Thr) 1057518231 MedGen:CN169374 15 43347084 43347084 A G 360197 single nucleotide variant NM_174916.2(UBR1):c.850G>C (p.Glu284Gln) 747313563 MedGen:CN169374 15 43060063 43060063 C G 360197 single nucleotide variant NM_174916.2(UBR1):c.850G>C (p.Glu284Gln) 747313563 MedGen:CN169374 15 43352261 43352261 C G

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 15 43244699 rs2277532 A G rs2277532 3.55E-06 Lung adenocarcinoma HPOID:0100526 DOID:3910 A intron GWASdb_trait 15 43247567 rs16957284 T C rs16957284 9.55E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 T intron GWASdb_trait 15 43357406 rs12050604 A C rs12050604 5.93E-33 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 15 43357406 rs12050604 A C rs12050604 9.75E-06 Lung adenocarcinoma HPOID:0100526 DOID:3910 A intron GWASdb_trait 15 43377604 rs17720657 G A rs17720657 2.00E-05 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000159459.11 UBR1 605981