Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 166291 single nucleotide variant NM_020765.2(UBR4):c.15272G>A (p.Arg5091His) 587777845 MedGen:CN221809 1 19404522 19404522 C T 166291 single nucleotide variant NM_020765.2(UBR4):c.15272G>A (p.Arg5091His) 587777845 MedGen:CN221809 1 19078028 19078028 C T 204069 single nucleotide variant NM_020765.2(UBR4):c.6397G>A (p.Ala2133Thr) 539999527 MedGen:C0023976,SNOMED CT:C0023976 1 19481473 19481473 C T 204069 single nucleotide variant NM_020765.2(UBR4):c.6397G>A (p.Ala2133Thr) 539999527 MedGen:C0023976,SNOMED CT:C0023976 1 19154979 19154979 C T 204070 single nucleotide variant NM_020765.2(UBR4):c.1557G>C (p.Gln519His) 796052209 MedGen:C0023976,SNOMED CT:C0023976 1 19187239 19187239 C G 204070 single nucleotide variant NM_020765.2(UBR4):c.1557G>C (p.Gln519His) 796052209 MedGen:C0023976,SNOMED CT:C0023976 1 19513733 19513733 C G 204071 single nucleotide variant NM_020765.2(UBR4):c.1349G>T (p.Arg450Leu) 757121959 MedGen:C0023976,SNOMED CT:C0023976 1 19518727 19518727 C A 204071 single nucleotide variant NM_020765.2(UBR4):c.1349G>T (p.Arg450Leu) 757121959 MedGen:C0023976,SNOMED CT:C0023976 1 19192233 19192233 C A 204072 single nucleotide variant NM_020765.2(UBR4):c.1097A>G (p.Lys366Arg) 796052208 MedGen:C0023976,SNOMED CT:C0023976 1 19519973 19519973 T C 204072 single nucleotide variant NM_020765.2(UBR4):c.1097A>G (p.Lys366Arg) 796052208 MedGen:C0023976,SNOMED CT:C0023976 1 19193479 19193479 T 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 1 19402390 rs10158468 T C rs10158468 9.95E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 T intron GWASdb_drug 1 19405237 rs2146866 A G rs2146866 8.46E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 T intron GWASdb_drug 1 19464773 rs2274001 C T rs2274001 5.94E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 A intron GWASdb_drug 1 19400691 rs3748761 C G rs3748761 8.54E-04 Alzheimer's disease HPOID:0002511 DOID:10652 G nearGene-3 GWASdb_trait 1 19402390 rs10158468 T C rs10158468 9.95E-04 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 T intron GWASdb_trait 1 19405237 rs2146866 A G rs2146866 8.46E-04 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 T intron GWASdb_trait 1 19437923 rs12740975 G A rs12740975 6.43E-04 Schizophrenia HPOID:0100753 DOID:5419 G intron GWASdb_trait 1 19464773 rs2274001 C T rs2274001 5.94E-04 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 A intron GWASdb_trait 1 19500551 rs1009806 T C rs1009806 8.07E-04 Schizophrenia HPOID:0100753 DOID:5419 T intron GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs3748759 1 19487656 19487656 intronic 0.8529 0.0691018855898954 GWAS of prostate cancer rs12062540 1 19529204 19529204 intronic 0.768561 0.11432165723118899 GWAS of prostate cancer rs12740975 1 19437923 19437923 intronic 0.670978 0.173291719227783 GWAS of prostate cancer rs1009806 1 19500551 19500551 intronic 0.658433 0.181488410847501 GWAS of prostate cancer rs7519084 1 19507999 19507999 intronic 0.420292 0.37644887644453 GWAS of prostate cancer rs4912046 1 19428929 19428929 intronic 0.411495 0.385635437451959 GWAS of prostate cancer rs4912048 1 19435432 19435432 intronic 0.383846 0.415842980749406 GWAS of prostate cancer rs6696220 1 19450334 19450334 intronic 0.354519 0.450360484390547

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000127481.14 UBR4 609890