Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 59800 single nucleotide variant NM_201647.2(STAMBP):c.125A>G (p.Glu42Gly) 397509387 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 74058108 74058108 A G 59800 single nucleotide variant NM_201647.2(STAMBP):c.125A>G (p.Glu42Gly) 397509387 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 73830981 73830981 A G 59801 single nucleotide variant NM_201647.2(STAMBP):c.532C>T (p.Arg178Ter) 397509388 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 74074670 74074670 C T 59801 single nucleotide variant NM_201647.2(STAMBP):c.532C>T (p.Arg178Ter) 397509388 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 73847543 73847543 C T 59802 single nucleotide variant NM_201647.2(STAMBP):c.112C>T (p.Arg38Cys) 143739249 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 74058095 74058095 C T 59802 single nucleotide variant NM_201647.2(STAMBP):c.112C>T (p.Arg38Cys) 143739249 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 73830968 73830968 C T 59803 single nucleotide variant NM_201647.2(STAMBP):c.279+5G>T 397509389 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 74072020 74072020 G T 59803 single nucleotide variant NM_201647.2(STAMBP):c.279+5G>T 397509389 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 73844893 73844893 G T 59804 single nucleotide variant NM_201647.2(STAMBP):c.1270C>T (p.Arg424Ter) 397509390 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 74089381 74089381 C T 59804 single nucleotide variant NM_201647.2(STAMBP):c.1270C>T (p.Arg424Ter) 397509390 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 73862254 73862254 C T 59805 single nucleotide variant NM_201647.2(STAMBP):c.299T>A (p.Phe100Tyr) 397514697 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 74072313 74072313 T A 59805 single nucleotide variant NM_201647.2(STAMBP):c.299T>A (p.Phe100Tyr) 397514697 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 73845186 73845186 T A 59806 deletion NM_201647.2(STAMBP):c.411delC (p.Ile138Serfs) 886037633 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 73847422 73847422 C - 59806 deletion NM_201647.2(STAMBP):c.411delC (p.Ile138Serfs) 886037633 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 74074549 74074549 C - 168074 single nucleotide variant NM_201647.2(STAMBP):c.12T>C (p.His4=) 919629 MedGen:CN169374 2 73830868 73830868 T C 168074 single nucleotide variant NM_201647.2(STAMBP):c.12T>C (p.His4=) 919629 MedGen:CN169374 2 74057995 74057995 T C 168075 single nucleotide variant NM_201647.2(STAMBP):c.499G>A (p.Glu167Lys) 140651555 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 73847510 73847510 G A 168075 single nucleotide variant NM_201647.2(STAMBP):c.499G>A (p.Glu167Lys) 140651555 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 74074637 74074637 G A 168076 single nucleotide variant NM_201647.2(STAMBP):c.921G>T (p.Gly307=) 77000353 MedGen:CN169374 2 73850429 73850429 G T 168076 single nucleotide variant NM_201647.2(STAMBP):c.921G>T (p.Gly307=) 77000353 MedGen:CN169374 2 74077556 74077556 G T 168077 single nucleotide variant NM_201647.2(STAMBP):c.1218+12T>C 1025424 MedGen:CN169374 2 73860163 73860163 T C 168077 single nucleotide variant NM_201647.2(STAMBP):c.1218+12T>C 1025424 MedGen:CN169374 2 74087290 74087290 T C 168078 single nucleotide variant NM_201647.2(STAMBP):c.1218+20A>G 2303987 MedGen:CN169374 2 73860171 73860171 A G 168078 single nucleotide variant NM_201647.2(STAMBP):c.1218+20A>G 2303987 MedGen:CN169374 2 74087298 74087298 A G 168079 single nucleotide variant NM_201647.2(STAMBP):c.1230C>T (p.His410=) 587784445 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 73862214 73862214 C T 168079 single nucleotide variant NM_201647.2(STAMBP):c.1230C>T (p.His410=) 587784445 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 74089341 74089341 C T 168080 deletion NM_201647.2(STAMBP):c.1259_1261delTCA (p.Ile420del) 587784446 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 73862243 73862245 TCA - 168080 deletion NM_201647.2(STAMBP):c.1259_1261delTCA (p.Ile420del) 587784446 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 74089370 74089372 TCA - 207025 single nucleotide variant NM_201647.2(STAMBP):c.997T>G (p.Trp333Gly) 746961743 MedGen:CN169374 2 73850505 73850505 T G 207025 single nucleotide variant NM_201647.2(STAMBP):c.997T>G (p.Trp333Gly) 746961743 MedGen:CN169374 2 74077632 74077632 T G 207026 single nucleotide variant NM_201647.2(STAMBP):c.1119-6T>G 797046015 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 74087173 74087173 T G 207026 single nucleotide variant NM_201647.2(STAMBP):c.1119-6T>G 797046015 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 73860046 73860046 T G 207027 single nucleotide variant NM_201647.2(STAMBP):c.1172G>C (p.Arg391Pro) 181632285 MedGen:CN169374 2 73860105 73860105 G C 207027 single nucleotide variant NM_201647.2(STAMBP):c.1172G>C (p.Arg391Pro) 181632285 MedGen:CN169374 2 74087232 74087232 G C 271066 indel NM_201647.2(STAMBP):c.106_108delTACinsAA (p.Tyr36Asnfs) 886043494 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 74058089 74058091 TAC AA 271066 indel NM_201647.2(STAMBP):c.106_108delTACinsAA (p.Tyr36Asnfs) 886043494 MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016 2 73830962 73830964 TAC AA

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 2 74056564 rs3813229 A G rs3813229 1.40E-29 Urinary metabolites (H-NMR features) HPOID:0000079 DOID:557 G UTR-5 GWASdb_trait 2 74070843 rs7609273 T C rs7609273 4.11E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 2 74087710 rs13384232 C A rs13384232 2.29E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 2 74087710 rs571878872 CA C rs13384232 2.29E-04 Multiple complex diseases HPOID:0000118 NA A 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 rs1036113 2 74071151 74071151 intronic 0.843819 0.0737506999754033

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000124356.15 STAMBP 606247