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 14 61292920 rs6573332 A G rs6573332 2.22E-06 ALPHA-TOCOPHEROL BETA CAROTENE|BETA-CAROTENE 15,15'-MONOOXYGENASE|BCMO1 PROTEIN, HUMAN|CAROTENOIDS Carotenoid and tocopherol levels HPOID:0100514|HPOID:0008372 DOID:10257|DOID:4026 G intron GWASdb_drug 14 61308337 rs6573333 T G rs6573333 8.46E-06 ALPHA-TOCOPHEROL BETA CAROTENE|BETA-CAROTENE 15,15'-MONOOXYGENASE|BCMO1 PROTEIN, HUMAN|CAROTENOIDS Carotenoid and tocopherol levels HPOID:0100514|HPOID:0008372 DOID:10257|DOID:4026 T intron GWASdb_drug 14 61308337 rs6573333 T G rs6573333 8.13E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_drug 14 61368033 rs7150492 T C rs7150492 2.22E-06 ALPHA-TOCOPHEROL BETA CAROTENE|BETA-CAROTENE 15,15'-MONOOXYGENASE|BCMO1 PROTEIN, HUMAN|CAROTENOIDS Carotenoid and tocopherol levels HPOID:0100514|HPOID:0008372 DOID:10257|DOID:4026 T intron GWASdb_drug 14 61401953 rs4151374 G A rs4151374 6.70E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 G intron GWASdb_drug 14 61215657 rs7141362 A G rs7141362 7.33E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 14 61241148 rs4151177 A G rs4151177 1.83E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 14 61241358 rs4151179 T G rs4151179 4.53E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 14 61242028 rs4151184 G A rs4151184 6.20E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 14 61261655 rs7153035 G A rs7153035 1.53E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 14 61273548 rs2284703 T G rs2284703 2.28E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 14 61292920 rs6573332 A G rs6573332 2.22E-06 Carotenoid and tocopherol levels HPOID:0100514|HPOID:0008372 DOID:10257|DOID:4026 G intron GWASdb_trait 14 61308337 rs6573333 T G rs6573333 8.46E-06 Carotenoid and tocopherol levels HPOID:0100514|HPOID:0008372 DOID:10257|DOID:4026 T intron GWASdb_trait 14 61308337 rs6573333 T G rs6573333 8.13E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_trait 14 61308337 rs6573333 T G rs6573333 3.00E-10 Immune reponse to smallpox (secreted IFN-alpha) HPOID:0005368 DOID:8736 T intron GWASdb_trait 14 61323938 rs8018438 A G rs8018438 1.95E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 14 61342218 rs6573339 A G rs6573339 3.17E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 14 61345381 rs8022005 A G rs8022005 1.38E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 14 61359789 rs4151315 A G rs4151315 2.30E-06 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 14 61366702 rs4902014 G A rs4902014 1.33E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 14 61368033 rs7150492 T C rs7150492 2.22E-06 Carotenoid and tocopherol levels HPOID:0100514|HPOID:0008372 DOID:10257|DOID:4026 T intron GWASdb_trait 14 61401953 rs4151374 G A rs4151374 6.70E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 G intron GWASdb_trait 14 61410039 rs10133880 A C rs10133880 9.92E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000020426.10 MNAT1 602659