USP47
Disease associated variation - GWASdb
ChrPosSNP ID(dbSNP 142)RefAltOri SNP IDP-valueDrug NameDrug AnnoGWAS TraitHPO IDDO IDAATypeTrait or Drug
1111939811rs12225231TCrs122252319.68E-06ISOLEUCINE|LEUCINEPYRROLIDONECARBOXYLIC ACID|ACETYLTRANSFERASES|(2S,3S,4R)-GAMMA-HYDROXYISOLEUCINE|NAT8 PROTEIN, HUMAN|FATTY ACIDS, UNSATURATEDMetabolite levels (Dihydroxy docosatrienoic acid)HPOID:0002621|HPOID:0001635DOID:1936|DOID:6000TintronGWASdb_drug
1111893217rs12418890GArs124188906.74E-04Oral cancers (chewing tobacco related)HPOID:0012290DOID:1749|DOID:403GintronGWASdb_trait
1111898743rs10831690TGrs108316902.36E-04ScoliosisHPOID:0010674DOID:0080010TintronGWASdb_trait
1111918698rs4360694TCrs43606943.73E-05Pulmonary function in asthmaticsHPOID:0005952|HPOID:0002099DOID:2841TintronGWASdb_trait
1111922325rs4910031TCrs49100314.54E-05Pulmonary function in asthmaticsHPOID:0005952|HPOID:0002099DOID:2841CintronGWASdb_trait
1111939811rs12225231TCrs122252319.68E-06Metabolite levels (Dihydroxy docosatrienoic acid)HPOID:0002621|HPOID:0001635DOID:1936|DOID:6000TintronGWASdb_trait
Disease associated variation - OMIM
Ensembl_gene_ID Approved Gene Symbol MIM Number
ENSG00000170242.17 USP47 614460