Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171474 single nucleotide variant NM_005392.3(PHF2):c.2563G>A (p.Asp855Asn) 193921057 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 9 93673799 93673799 G A 171474 single nucleotide variant NM_005392.3(PHF2):c.2563G>A (p.Asp855Asn) 193921057 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 9 96436081 96436081 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 9 96357739 rs10116422 A C rs10116422 0.00001879 Sarcoidosis HPOID:0012220 DOID:11335 C intron GWASdb_trait 9 96357925 rs10117691 T C rs10117691 0.0000705 Sarcoidosis HPOID:0012220 DOID:11335 C intron GWASdb_trait 9 96358030 rs10114002 C T rs10114002 0.00006833 Sarcoidosis HPOID:0012220 DOID:11335 C intron GWASdb_trait 9 96363700 rs2254715 C T rs2254715 3.39E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 T intron GWASdb_trait 9 96376900 rs2994368 A G rs2994368 1.96E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 9 96377797 rs2250236 C T rs2250236 1.78E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 NA intron GWASdb_trait 9 96379797 rs12551314 C A rs12551314 4.30E-05 Osteoarthritis (hip) HPOID:0008843 DOID:8398 C intron GWASdb_trait 9 96393807 rs12238738 A G rs12238738 2.08E-05 Formal thought disorder in schizophrenia HPOID:0100753 DOID:5419 A intron GWASdb_trait 9 96395801 rs2001589 G A rs2001589 4.14E-05 Formal thought disorder in schizophrenia HPOID:0100753 DOID:5419 C intron GWASdb_trait 9 96414935 rs10821191 T C rs10821191 2.13E-05 Formal thought disorder in schizophrenia HPOID:0100753 DOID:5419 C intron GWASdb_trait 9 96415899 rs11793637 A G rs11793637 5.55E-04 Alcohol dependence HPOID:0000707 DOID:0050741 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000197724.10 PHF2 604351