Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 27336 single nucleotide variant NM_004181.4(UCHL1):c.279C>G (p.Ile93Met) 121917767 MedGen:C3150899,OMIM:613643 4 41262768 41262768 C G 27336 single nucleotide variant NM_004181.4(UCHL1):c.279C>G (p.Ile93Met) 121917767 MedGen:C3150899,OMIM:613643 4 41260751 41260751 C G 27337 single nucleotide variant NM_004181.4(UCHL1):c.53C>A (p.Ser18Tyr) 5030732 MedGen:CN239359;MedGen:C3150899,OMIM:613643 4 41259633 41259633 C A 27337 single nucleotide variant NM_004181.4(UCHL1):c.53C>A (p.Ser18Tyr) 5030732 MedGen:CN239359;MedGen:C3150899,OMIM:613643 4 41257616 41257616 C A 94224 single nucleotide variant NM_004181.4(UCHL1):c.20A>C (p.Glu7Ala) 397515634 MedGen:C3809665,OMIM:615491,Orphanet:ORPHA352654 4 41259013 41259013 A C 94224 single nucleotide variant NM_004181.4(UCHL1):c.20A>C (p.Glu7Ala) 397515634 MedGen:C3809665,OMIM:615491,Orphanet:ORPHA352654 4 41256996 41256996 A C 246966 single nucleotide variant NM_004181.4(UCHL1):c.370A>C (p.Met124Leu) 150601238 MedGen:CN169374 4 41263776 41263776 A C 246966 single nucleotide variant NM_004181.4(UCHL1):c.370A>C (p.Met124Leu) 150601238 MedGen:CN169374 4 41261759 41261759 A C 293414 single nucleotide variant NM_004181.4(UCHL1):c.45+6T>C 11556273 MedGen:CN239359 4 41257132 41257132 T C 293414 single nucleotide variant NM_004181.4(UCHL1):c.45+6T>C 11556273 MedGen:CN239359 4 41259149 41259149 T C 293417 deletion NM_004181.4(UCHL1):c.326-4delT 368441837 MedGen:CN239359 4 41261711 41261711 T - 293417 deletion NM_004181.4(UCHL1):c.326-4delT 368441837 MedGen:CN239359 4 41263728 41263728 T - 293418 single nucleotide variant NM_004181.4(UCHL1):c.*125C>T 886059408 MedGen:CN239359 4 41270215 41270215 C T 293418 single nucleotide variant NM_004181.4(UCHL1):c.*125C>T 886059408 MedGen:CN239359 4 41268198 41268198 C T 294806 single nucleotide variant NM_004181.4(UCHL1):c.-16C>T 9321 MedGen:CN239359 4 41256961 41256961 C T 294806 single nucleotide variant NM_004181.4(UCHL1):c.-16C>T 9321 MedGen:CN239359 4 41258978 41258978 C T 294808 single nucleotide variant NM_004181.4(UCHL1):c.33+5G>C 886059407 MedGen:CN239359 4 41257014 41257014 G C 294808 single nucleotide variant NM_004181.4(UCHL1):c.33+5G>C 886059407 MedGen:CN239359 4 41259031 41259031 G C 294817 single nucleotide variant NM_004181.4(UCHL1):c.*309T>C 78683791 MedGen:CN239359 4 41268382 41268382 T C 294817 single nucleotide variant NM_004181.4(UCHL1):c.*309T>C 78683791 MedGen:CN239359 4 41270399 41270399 T C 298441 single nucleotide variant NM_004181.4(UCHL1):c.-71C>G 201100258 MedGen:CN239359 4 41256906 41256906 C G 298441 single nucleotide variant NM_004181.4(UCHL1):c.-71C>G 201100258 MedGen:CN239359 4 41258923 41258923 C G 298445 single nucleotide variant NM_004181.4(UCHL1):c.175-5C>T 373327947 MedGen:CN239359 4 41260642 41260642 C T 298445 single nucleotide variant NM_004181.4(UCHL1):c.175-5C>T 373327947 MedGen:CN239359 4 41262659 41262659 C T 298446 single nucleotide variant NM_004181.4(UCHL1):c.513C>T (p.His171=) 145093131 MedGen:CN239359 4 41265295 41265295 C T 298446 single nucleotide variant NM_004181.4(UCHL1):c.513C>T (p.His171=) 145093131 MedGen:CN239359 4 41263278 41263278 C T 298447 single nucleotide variant NM_004181.4(UCHL1):c.527-3C>T 749663332 MedGen:CN239359 4 41266117 41266117 C T 298447 single nucleotide variant NM_004181.4(UCHL1):c.527-3C>T 749663332 MedGen:CN239359 4 41264100 41264100 C T 298451 single nucleotide variant NM_004181.4(UCHL1):c.609A>G (p.Glu203=) 147661219 MedGen:CN239359 4 41270027 41270027 A G 298451 single nucleotide variant NM_004181.4(UCHL1):c.609A>G (p.Glu203=) 147661219 MedGen:CN239359 4 41268010 41268010 A G 298505 single nucleotide variant NM_004181.4(UCHL1):c.-47C>T 752001613 MedGen:CN239359 4 41256930 41256930 C T 298505 single nucleotide variant NM_004181.4(UCHL1):c.-47C>T 752001613 MedGen:CN239359 4 41258947 41258947 C T 298506 single nucleotide variant NM_004181.4(UCHL1):c.-24A>G 11556271 MedGen:CN239359 4 41256953 41256953 A G 298506 single nucleotide variant NM_004181.4(UCHL1):c.-24A>G 11556271 MedGen:CN239359 4 41258970 41258970 A G 298512 single nucleotide variant NM_004181.4(UCHL1):c.558C>T (p.Gly186=) 116680633 MedGen:CN239359 4 41266151 41266151 C T 298512 single nucleotide variant NM_004181.4(UCHL1):c.558C>T (p.Gly186=) 116680633 MedGen:CN239359 4 41264134 41264134 C T 298513 single nucleotide variant NM_004181.4(UCHL1):c.*294G>A 116700032 MedGen:CN239359 4 41270384 41270384 G A 298513 single nucleotide variant NM_004181.4(UCHL1):c.*294G>A 116700032 MedGen:CN239359 4 41268367 41268367 G A

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 4 41265921 rs17528160 A G rs17528160 2.10E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 4 41266295 rs3775256 C T rs3775256 3.76E-05 Intelligence HPOID:0000118 DOID:1094|DOID:1561 G intron GWASdb_trait 4 41268465 rs4861387 G A rs4861387 1.59E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000154277.12 UCHL1 191342