Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171358 single nucleotide variant NM_178824.3(WDR49):c.1409C>A (p.Ser470Ter) 193921101 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 3 167527959 167527959 G T 171358 single nucleotide variant NM_178824.3(WDR49):c.1409C>A (p.Ser470Ter) 193921101 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 3 167245747 167245747 G T

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 3 167300830 rs13318752 A G rs13318752 2.88E-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 A intron GWASdb_drug 3 167208012 rs9881165 T C rs9881165 5.75E-04 Smoking quantity HPOID:0000707 DOID:0050742 T intron GWASdb_trait 3 167289471 rs6807215 C T rs6807215 6.60E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 3 167300830 rs13318752 A G rs13318752 2.88E-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 A intron GWASdb_trait 3 167300830 rs13318752 A G rs13318752 8.93E-05 Coronary heart disease HPOID:0001677 DOID:3393 A intron GWASdb_trait 3 167348838 rs7627289 G A rs7627289 2.00E-06 Visceral fat HPOID:0009124 DOID:9970 G intron GWASdb_trait