Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171600 single nucleotide variant NM_001007228.1(SPOP):c.399C>G (p.Phe133Leu) 193921065 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 17 49619062 49619062 G C 171600 single nucleotide variant NM_001007228.1(SPOP):c.399C>G (p.Phe133Leu) 193921065 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 17 47696424 47696424 G C 171601 single nucleotide variant NM_001007228.1(SPOP):c.305T>G (p.Phe102Cys) 193920894 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 17 49619281 49619281 A C 171601 single nucleotide variant NM_001007228.1(SPOP):c.305T>G (p.Phe102Cys) 193920894 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 17 47696643 47696643 A C 171909 single nucleotide variant NM_003563.3(SPOP):c.887A>T (p.Asn296Ile) 727502792 MedGen:CN221809 17 47679320 47679320 T A 171909 single nucleotide variant NM_003563.3(SPOP):c.887A>T (p.Asn296Ile) 727502792 MedGen:CN221809 17 49601958 49601958 T 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 17 47676982 rs1061431 G A rs1061431 5.18E-04 PROPYLTHIOURACIL RECEPTORS, G-PROTEIN-COUPLED|TASTE RECEPTORS, TYPE 2 Taste perception HPOID:0000223 DOID:0050155 C UTR-3 GWASdb_drug 17 47676982 rs1061431 G A rs1061431 5.18E-04 Taste perception HPOID:0000223 DOID:0050155 C UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000121067.17 SPOP 602650