Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 161387 copy number gain GRCh38/hg38 16p13.2(chr16:8915212-9047581)x3 -1 - 16 9009069 9141438 na na 161387 copy number gain GRCh38/hg38 16p13.2(chr16:8915212-9047581)x3 -1 - 16 8915212 9047581 na na 161387 copy number gain GRCh38/hg38 16p13.2(chr16:8915212-9047581)x3 -1 - 16 8916570 9048939 na na 226504 single nucleotide variant NM_003470.2(USP7):c.429C>G (p.Tyr143Ter) 756550597 MedGen:CN221809 16 8921250 8921250 G C 226504 single nucleotide variant NM_003470.2(USP7):c.429C>G (p.Tyr143Ter) 756550597 MedGen:CN221809 16 9015107 9015107 G C

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 16 9013464 rs201638486 T TTTATTTTG rs2126999 8.06E-06 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 16 9013464 rs2126999 T C rs2126999 8.06E-06 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 16 9031104 rs2437716 T C rs2437716 7.90E-05 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 16 9044162 rs12929193 T C rs12929193 6.79E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000187555.14 USP7 602519