Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 24961 single nucleotide variant NM_003336.3(UBE2A):c.382C>T (p.Gln128Ter) 104894952 MedGen:C3275464,OMIM:300860,Orphanet:ORPHA163956 X 118717141 118717141 C T 24961 single nucleotide variant NM_003336.3(UBE2A):c.382C>T (p.Gln128Ter) 104894952 MedGen:C3275464,OMIM:300860,Orphanet:ORPHA163956 X 119583178 119583178 C T 38947 single nucleotide variant UBE2A, GLY23ARG -1 MedGen:C3275464,OMIM:300860,Orphanet:ORPHA163956 na -1 -1 na na 38948 single nucleotide variant NM_003336.3(UBE2A):c.32G>A (p.Arg11Gln) 387906728 MedGen:C3275464,OMIM:300860,Orphanet:ORPHA163956 X 118708706 118708706 G A 38948 single nucleotide variant NM_003336.3(UBE2A):c.32G>A (p.Arg11Gln) 387906728 MedGen:C3275464,OMIM:300860,Orphanet:ORPHA163956 X 119574743 119574743 G A 194914 single nucleotide variant NM_003336.3(UBE2A):c.321A>G (p.Thr107=) 61757566 MedGen:CN169374 X 119582667 119582667 A G 194914 single nucleotide variant NM_003336.3(UBE2A):c.321A>G (p.Thr107=) 61757566 MedGen:CN169374 X 118716630 118716630 A 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 X 118716987 rs7879933 C A rs7879933 2.00E-10 Brain connectivity HPOID:0007319 DOID:0060052|DOID:2468|DOID:1289 C 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 rs7879933 X 118716987 118716987 intronic 0.678732 0.168301674757544 GWAS of prostate cancer rs6603535 X 118712005 118712005 intronic 0.400582 0.397308569461577

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000077721.15 UBE2A 312180