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 20 34220755 rs11543244 C T rs11543244 0.000259 METHIONINE CASPASE 1|CASPASE 9|CASP9 PROTEIN, HUMAN|5'-METHYLTHIOADENOSINE|APIP PROTEIN, HUMAN|DEOXYADENOSINES|THIONUCLEOSIDES|APOPTOSIS REGULATORY PROTEINS Salmonella-induced pyroptosis NA NA G missense GWASdb_drug 20 34214723 rs2425068 T C rs2425068 1.30E-09 Protein C levels HPOID:0003256 DOID:3756 T splice-5 GWASdb_trait 20 34216340 rs6060517 T C rs6060517 2.83E-37 Protein C levels HPOID:0003256 DOID:3756 T intron GWASdb_trait 20 34219480 rs2230219 G A rs2230219 7.57E-43 Protein C levels HPOID:0003256 DOID:3756 C cds-synon GWASdb_trait 20 34220755 rs11543244 C T rs11543244 0.000259 Salmonella-induced pyroptosis NA NA G missense GWASdb_trait 20 34221023 rs926994 G A rs926994 7.37E-43 Protein C levels HPOID:0003256 DOID:3756 G intron GWASdb_trait 20 34229645 rs17426419 T C rs17426419 1.67E-42 Protein C levels HPOID:0003256 DOID:3756 T intron GWASdb_trait 20 34246117 rs17427233 T G rs17427233 1.58E-42 Protein C levels HPOID:0003256 DOID:3756 T intron GWASdb_trait 20 34247849 rs6060540 C T rs6060540 2.60E-42 Protein C levels HPOID:0003256 DOID:3756 T intron GWASdb_trait 20 34248769 rs6058292 T C rs6058292 1.39E-42 Protein C levels HPOID:0003256 DOID:3756 T intron GWASdb_trait 20 34250648 rs6121019 G T rs6121019 1.23E-42 Protein C levels HPOID:0003256 DOID:3756 G intron GWASdb_trait 20 34252438 rs6121021 A C rs6121021 8.31E-43 Protein C levels HPOID:0003256 DOID:3756 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000214078.12 CPNE1 604205