Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 132600 single nucleotide variant NM_001039590.2(USP9X):c.6278T>A (p.Leu2093His) 587777317 MedGen:C3806746,OMIM:300919 X 41077693 41077693 T A 132600 single nucleotide variant NM_001039590.2(USP9X):c.6278T>A (p.Leu2093His) 587777317 MedGen:C3806746,OMIM:300919 X 41218440 41218440 T A 132601 deletion NM_001039590.2(USP9X):c.7574delA (p.Gln2525Argfs) 587777318 MedGen:C3806746,OMIM:300919 X 41089848 41089848 A - 132601 deletion NM_001039590.2(USP9X):c.7574delA (p.Gln2525Argfs) 587777318 MedGen:C3806746,OMIM:300919 X 41230595 41230595 A - 132602 single nucleotide variant NM_001039590.2(USP9X):c.6469C>A (p.Leu2157Ile) 587777319 MedGen:CN221809 X 41078388 41078388 C A 132602 single nucleotide variant NM_001039590.2(USP9X):c.6469C>A (p.Leu2157Ile) 587777319 MedGen:CN221809 X 41219135 41219135 C A 224821 single nucleotide variant NM_001039590.2(USP9X):c.2554C>T (p.Arg852Ter) 869025588 MedGen:CN235381,OMIM:300968 X 41168136 41168136 C T 224821 single nucleotide variant NM_001039590.2(USP9X):c.2554C>T (p.Arg852Ter) 869025588 MedGen:CN235381,OMIM:300968 X 41027389 41027389 C T 224822 single nucleotide variant NM_001039590.2(USP9X):c.3028_3148del121 869025589 MedGen:CN235381,OMIM:300968 X 41171836 41171836 A G 224822 single nucleotide variant NM_001039590.2(USP9X):c.3028_3148del121 869025589 MedGen:CN235381,OMIM:300968 X 41031089 41031089 A G 224823 insertion NM_001039590.2(USP9X):c.2644_2645insA (p.Arg882Glnfs) 869025590 MedGen:CN235381,OMIM:300968 X 41029255 41029256 - A 224823 insertion NM_001039590.2(USP9X):c.2644_2645insA (p.Arg882Glnfs) 869025590 MedGen:CN235381,OMIM:300968 X 41170002 41170003 - A 224824 single nucleotide variant NM_001039590.2(USP9X):c.3763C>T (p.Gln1255Ter) 869025591 MedGen:CN235381,OMIM:300968 X 41047323 41047323 C T 224824 single nucleotide variant NM_001039590.2(USP9X):c.3763C>T (p.Gln1255Ter) 869025591 MedGen:CN235381,OMIM:300968 X 41188070 41188070 C T 224825 single nucleotide variant NM_001039590.2(USP9X):c.1111C>T (p.Arg371Ter) 869025592 MedGen:CN235381,OMIM:300968 X 41000634 41000634 C T 224825 single nucleotide variant NM_001039590.2(USP9X):c.1111C>T (p.Arg371Ter) 869025592 MedGen:CN235381,OMIM:300968 X 41141381 41141381 C T 237431 single nucleotide variant NM_001039590.2(USP9X):c.640C>G (p.Pro214Ala) 878853105 MedGen:CN221809 X 40996261 40996261 C G 237431 single nucleotide variant NM_001039590.2(USP9X):c.640C>G (p.Pro214Ala) 878853105 MedGen:CN221809 X 41137008 41137008 C G 265099 single nucleotide variant NM_001039590.2(USP9X):c.1140G>A (p.Trp380Ter) 886041595 MedGen:CN221809 X 41000663 41000663 G A 265099 single nucleotide variant NM_001039590.2(USP9X):c.1140G>A (p.Trp380Ter) 886041595 MedGen:CN221809 X 41141410 41141410 G A 360614 single nucleotide variant NM_001039590.2(USP9X):c.5134A>C (p.Lys1712Gln) 775379712 MedGen:CN169374 X 41210627 41210627 A C 360614 single nucleotide variant NM_001039590.2(USP9X):c.5134A>C (p.Lys1712Gln) 775379712 MedGen:CN169374 X 41069880 41069880 A C 360638 deletion NM_001039590.2(USP9X):c.520_522delCTT (p.Leu174del) 1057518114 MedGen:CN221809 X 41136888 41136890 CTT - 360638 deletion NM_001039590.2(USP9X):c.520_522delCTT (p.Leu174del) 1057518114 MedGen:CN221809 X 40996141 40996143 CTT - 360642 single nucleotide variant NM_001039590.2(USP9X):c.2876C>A (p.Ser959Ter) 1057518174 MedGen:CN221809 X 41170234 41170234 C A 360642 single nucleotide variant NM_001039590.2(USP9X):c.2876C>A (p.Ser959Ter) 1057518174 MedGen:CN221809 X 41029487 41029487 C A 361151 deletion NM_001039590.2(USP9X):c.5339_5340delCC (p.Thr1780Serfs) 1057519007 MedGen:CN239858 X 41075159 41075160 CC - 361151 deletion NM_001039590.2(USP9X):c.5339_5340delCC (p.Thr1780Serfs) 1057519007 MedGen:CN239858 X 41215906 41215907 CC -

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 41093413 rs4827256 A T rs4827256 9.50E-05 Parkinson's disease (age of onset) HPOID:0001300 DOID:14330 A UTR-3 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 rs3788879 X 41041235 41041235 intronic 0.988441 0.00504924859527209 GWAS of prostate cancer rs5918117 X 40980577 40980577 intronic 0.959568 0.0179242434628005 GWAS of prostate cancer rs5918135 X 41077195 41077195 intronic 0.641606 0.192731583385508 GWAS of prostate cancer rs4827050 X 41061864 41061864 intronic 0.628194 0.201906215946644 GWAS of prostate cancer rs1263905 X 40994544 40994544 intronic 0.548684 0.260677703942838 GWAS of prostate cancer rs5963931 X 41064184 41064184 intronic 0.341281 0.466887889350561 GWAS of prostate cancer rs3761594 X 40964127 40964127 intronic 0.214655 0.6682589909622311 GWAS of prostate cancer rs2284116 X 41051780 41051780 intronic 0.206507 0.685065222410253 GWAS of prostate cancer rs2267494 X 41049864 41049864 intronic 0.206335 0.685427097680741 GWAS of prostate cancer rs2239496 X 41016620 41016620 intronic 0.142812 0.8452352987585621 GWAS of prostate cancer rs12837663 X 41064209 41064209 intronic 0.031107 1.50714187080289

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000124486.12 USP9X 300072