Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 48499 single nucleotide variant PHIP, TYR1149TER -1 - na -1 -1 na na 243872 deletion NM_017934.6(PHIP):c.779delT (p.Leu260Trpfs) 878854421 MedGen:CN221809 6 79735703 79735703 A - 243872 deletion NM_017934.6(PHIP):c.779delT (p.Leu260Trpfs) 878854421 MedGen:CN221809 6 79025986 79025986 A - 243880 single nucleotide variant NM_017934.6(PHIP):c.50T>C (p.Phe17Ser) 878854420 MedGen:CN221809 6 79787621 79787621 A G 243880 single nucleotide variant NM_017934.6(PHIP):c.50T>C (p.Phe17Ser) 878854420 MedGen:CN221809 6 79077904 79077904 A G 359620 single nucleotide variant NM_017934.6(PHIP):c.545A>G (p.His182Arg) 1057518337 MedGen:CN221809 6 79042898 79042898 T C 359620 single nucleotide variant NM_017934.6(PHIP):c.545A>G (p.His182Arg) 1057518337 MedGen:CN221809 6 79752615 79752615 T 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 6 79688366 rs12209235 T C rs12209235 1.70E-05 IRON TFR2 PROTEIN, HUMAN|RECEPTORS, TRANSFERRIN Iron levels HPOID:0011031 DOID:2351 T cds-synon GWASdb_drug 6 79688366 rs12209235 T C rs12209235 1.70E-05 Iron levels HPOID:0011031 DOID:2351 T cds-synon GWASdb_trait 6 79746891 rs9359363 C T rs9359363 2.62E-04 Multiple complex diseases HPOID:0000118 NA C,T intron GWASdb_trait 6 79783037 rs7744876 G A rs7744876 1.10E-06 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000146247.13 PHIP 612870