Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 153638 deletion NM_032018.6(SPRTN):c.718_718+3delGGTA 587593493 MedGen:CN225196,OMIM:616200;MedGen:CN221809 1 231351571 231351574 GGTA - 153638 deletion NM_032018.6(SPRTN):c.718_718+3delGGTA 587593493 MedGen:CN225196,OMIM:616200;MedGen:CN221809 1 231487317 231487320 GGTA - 153639 single nucleotide variant NM_032018.6(SPRTN):c.350A>G (p.Tyr117Cys) 527236213 MedGen:CN225196,OMIM:616200 1 231483571 231483571 A G 153639 single nucleotide variant NM_032018.6(SPRTN):c.350A>G (p.Tyr117Cys) 527236213 MedGen:CN225196,OMIM:616200 1 231347825 231347825 A G 172306 deletion NM_032018.6(SPRTN):c.723delA (p.Lys241Asnfs) 527236212 MedGen:CN225196,OMIM:616200 1 231488360 231488360 A - 172306 deletion NM_032018.6(SPRTN):c.723delA (p.Lys241Asnfs) 527236212 MedGen:CN225196,OMIM:616200 1 231352614 231352614 A -

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 rs2437150 1 231488524 231488524 exonic 0.319972 0.494888024109891 GWAS of prostate cancer rs2250704 1 231486647 231486647 intronic 0.305461 0.515044230809323

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000010072.15 SPRTN 616086