Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 139351 single nucleotide variant NM_032147.4(USP44):c.213G>T (p.Glu71Asp) 11548854 MedGen:CN221809 12 95927820 95927820 C A 139351 single nucleotide variant NM_032147.4(USP44):c.213G>T (p.Glu71Asp) 11548854 MedGen:CN221809 12 95534044 95534044 C 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 12 95921261 rs10777699 G C rs10777699 3.05E-04 Coronary heart disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 12 95928560 rs2197973 C T rs2197973 5.30E-04 Iris characteristics HPOID:0000525 DOID:240 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000136014.11 USP44 610993