Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 188778 single nucleotide variant NM_015604.3(DCAF4):c.728+1334G>A 2535913 Gene:550641,MedGen:C1836777,OMIM:609113 14 73415233 73415233 G A 188778 single nucleotide variant NM_015604.3(DCAF4):c.728+1334G>A 2535913 Gene:550641,MedGen:C1836777,OMIM:609113 14 72948525 72948525 G A

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 73393246 rs3213729 G C rs3213729 1.00E-05 ASPIRIN ANTI-INFLAMMATORY AGENTS, NON-STEROIDAL|CEP68 PROTEIN, HUMAN|MICROTUBULE-ASSOCIATED PROTEINS Asthma (aspirin-intolerant) HPOID:0012042 DOID:2841 C UTR-5 GWASdb_drug 14 73415817 rs2806039 T C rs2806039 3.85E-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 73425681 rs7144738 A C rs7144738 7.56E-05 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 UTR-3 GWASdb_drug 14 73393246 rs3213729 G C rs3213729 1.00E-05 Asthma (aspirin-intolerant) HPOID:0012042 DOID:2841 C UTR-5 GWASdb_trait 14 73413965 rs2243443 G C rs2243443 2.87E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 14 73415065 rs2806040 T C rs2806040 3.96E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 14 73415233 rs2535913 G A rs2535913 3.24E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 14 73415817 rs2806039 T C rs2806039 3.85E-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 73422350 rs2806034 T G rs2806034 4.30E-04 Multiple complex diseases HPOID:0000118 NA A cds-synon GWASdb_trait 14 73425681 rs7144738 A C rs7144738 7.56E-05 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 UTR-3 GWASdb_trait 14 73425681 rs7144738 A C rs7144738 1.00E-04 Prostate cancer HPOID:0012125 DOID:10283 A UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000119599.16 DCAF4 616372