Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 106839 single nucleotide variant NM_001128610.2(USP8):c.928C>A (p.Gln310Lys) 587777201 MedGen:CN221809 15 50476927 50476927 C A 106839 single nucleotide variant NM_001128610.2(USP8):c.928C>A (p.Gln310Lys) 587777201 MedGen:CN221809 15 50769124 50769124 C A 171716 single nucleotide variant NM_005154.4(USP8):c.2138T>G (p.Leu713Arg) 672601309 MedGen:C0221406,OMIM:219090,Orphanet:ORPHA96253,SNOMED CT:C0221406 15 50490429 50490429 T G 171716 single nucleotide variant NM_005154.4(USP8):c.2138T>G (p.Leu713Arg) 672601309 MedGen:C0221406,OMIM:219090,Orphanet:ORPHA96253,SNOMED CT:C0221406 15 50782626 50782626 T G 171717 single nucleotide variant NM_005154.4(USP8):c.2150A>G (p.Tyr717Cys) 672601310 MedGen:C0221406,OMIM:219090,Orphanet:ORPHA96253,SNOMED CT:C0221406 15 50490441 50490441 A G 171717 single nucleotide variant NM_005154.4(USP8):c.2150A>G (p.Tyr717Cys) 672601310 MedGen:C0221406,OMIM:219090,Orphanet:ORPHA96253,SNOMED CT:C0221406 15 50782638 50782638 A G 171718 single nucleotide variant NM_005154.4(USP8):c.2152T>C (p.Ser718Pro) 672601307 MedGen:C0221406,OMIM:219090,Orphanet:ORPHA96253,SNOMED CT:C0221406 15 50490443 50490443 T C 171718 single nucleotide variant NM_005154.4(USP8):c.2152T>C (p.Ser718Pro) 672601307 MedGen:C0221406,OMIM:219090,Orphanet:ORPHA96253,SNOMED CT:C0221406 15 50782640 50782640 T C 171719 single nucleotide variant NM_005154.4(USP8):c.2153C>G (p.Ser718Cys) 672601308 MedGen:C0221406,OMIM:219090,Orphanet:ORPHA96253,SNOMED CT:C0221406 15 50490444 50490444 C G 171719 single nucleotide variant NM_005154.4(USP8):c.2153C>G (p.Ser718Cys) 672601308 MedGen:C0221406,OMIM:219090,Orphanet:ORPHA96253,SNOMED CT:C0221406 15 50782641 50782641 C G 171720 deletion NM_005154.4(USP8):c.2155_2157delTCC (p.Ser719del) 672601306 MedGen:C0221406,OMIM:219090,Orphanet:ORPHA96253,SNOMED CT:C0221406 15 50490446 50490448 TCC - 171720 deletion NM_005154.4(USP8):c.2155_2157delTCC (p.Ser719del) 672601306 MedGen:C0221406,OMIM:219090,Orphanet:ORPHA96253,SNOMED CT:C0221406 15 50782643 50782645 TCC - 171721 single nucleotide variant NM_005154.4(USP8):c.2159C>G (p.Pro720Arg) 672601311 MedGen:C0221406,OMIM:219090,Orphanet:ORPHA96253,SNOMED CT:C0221406 15 50490450 50490450 C G 171721 single nucleotide variant NM_005154.4(USP8):c.2159C>G (p.Pro720Arg) 672601311 MedGen:C0221406,OMIM:219090,Orphanet:ORPHA96253,SNOMED CT:C0221406 15 50782647 50782647 C 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 15 50717068 rs7174015 G A rs7174015 9.38E-05 Multiple sclerosis HPOID:0000096|HPOID:0001967|HPOID:0009741|HPOID:0008664|HPOID:0001150|HPOID:0005450|HPOID:0005652|HPOID:0005686|HPOID:0005789|HPOID:0100923|HPOID:0100925|HPOID:0006623|HPOID:0100861|HPOID:0002694|HPOID:0004979|HPOID:0003881|HPOID:0003991|HPOID:0003854|HPOID:0003933|HPOID:0004030|HPOID:0100899|HPOID:0002634 DOID:2377 A intron GWASdb_trait 15 50717068 rs7174015 G A rs7174015 3.57E-05 Male fertility HPOID:0003251 DOID:12336 A intron GWASdb_trait 15 50772736 rs12050594 A T rs12050594 3.62E-07 Facial morphology HPOID:0001999 DOID:10334 A intron GWASdb_trait 15 50773787 rs3743044 A G rs3743044 0.00079 Breast cancer HPOID:0003002 DOID:1612 A missense GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000138592.13 USP8 603158