Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171497 single nucleotide variant NM_020886.3(USP28):c.571C>T (p.Leu191Phe) 193920846 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 11 113834299 113834299 G A 171497 single nucleotide variant NM_020886.3(USP28):c.571C>T (p.Leu191Phe) 193920846 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 11 113705021 113705021 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 11 113679119 rs2465647 C T rs2465647 2.90E-04 Age-related macular degeneration HPOID:0007868 DOID:10871 T cds-synon GWASdb_trait 11 113684809 rs2519200 A G rs2519200 1.80E-05 Cognitive function HPOID:0100543 DOID:1561 C intron GWASdb_trait 11 113696653 rs7111825 C T rs7111825 2.10E-04 Age-related macular degeneration HPOID:0007868 DOID:10871 T intron GWASdb_trait 11 113696653 rs7111825 C T rs7111825 9.01E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs) HPOID:0001875|HPOID:0001882 DOID:1227 T intron GWASdb_trait 11 113712526 rs7112957 T C rs7112957 4.11E-04 Age-related macular degeneration HPOID:0007868 DOID:10871 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000048028.11 USP28 610748