Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 28740 single nucleotide variant NM_005036.4(PPARA):c.484C>G (p.Leu162Val) 1800206 MedGen:C1868414 22 46614274 46614274 C G 28740 single nucleotide variant NM_005036.4(PPARA):c.484C>G (p.Leu162Val) 1800206 MedGen:C1868414 22 46218377 46218377 C G

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 22 46550959 rs4253624 T C rs4253624 1.32E-10 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 T intron GWASdb_trait 22 46563419 rs4253642 A G rs4253642 1.33E-15 Cholesterol, total HPOID:0003107 DOID:3393|DOID:3146|DOID:2349 G intron GWASdb_trait 22 46563419 rs4253642 A G rs4253642 1.64E-24 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 G intron GWASdb_trait 22 46563419 rs4253642 A G rs4253642 2.80E-09 LDL cholesterol HPOID:0010979 DOID:1936|DOID:3393 G intron GWASdb_trait 22 46570342 rs9626737 A G rs9626737 1.88E-04 Celiac disease HPOID:0001438 DOID:10608 A intron GWASdb_trait 22 46607378 rs5766743 A G rs5766743 9.62E-04 Breast cancer HPOID:0003002 DOID:1612 G intron GWASdb_trait 22 46610067 rs4253728 G A rs4253728 8.25E-04 Breast cancer HPOID:0003002 DOID:1612 G intron GWASdb_trait 22 46615144 rs4253754 G A rs4253754 6.08E-04 Breast cancer HPOID:0003002 DOID:1612 G intron GWASdb_trait 22 46621994 rs5767743 T C rs5767743 4.80E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 C intron GWASdb_trait 22 46627603 rs4253772 C T rs4253772 1.00E-08 Cholesterol, total HPOID:0003107 DOID:3393|DOID:3146|DOID:2349 C intron GWASdb_trait 22 46627603 rs4253772 C T rs4253772 3.00E-08 LDL cholesterol HPOID:0010979 DOID:1936|DOID:3393 C intron GWASdb_trait 22 46637254 rs9626814 G A rs9626814 1.34E-24 Narcolepsy HPOID:0100786 DOID:8986 A UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000186951.16 PPARA 170998