Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 165521 single nucleotide variant NM_172240.2(POC1B):c.317G>C (p.Arg106Pro) 76216585 MedGen:CN219005,OMIM:615973 12 89885848 89885848 C G 165521 single nucleotide variant NM_172240.2(POC1B):c.317G>C (p.Arg106Pro) 76216585 MedGen:CN219005,OMIM:615973 12 89492071 89492071 C G 165522 deletion NM_172240.2(POC1B):c.199_201delCAG (p.Gln67del) 587777693 MedGen:CN219005,OMIM:615973 12 89891019 89891021 CTG - 165522 deletion NM_172240.2(POC1B):c.199_201delCAG (p.Gln67del) 587777693 MedGen:CN219005,OMIM:615973 12 89497242 89497244 CTG - 165523 single nucleotide variant NM_172240.2(POC1B):c.810+1G>T 587777694 MedGen:CN219005,OMIM:615973 12 89864137 89864137 C A 165523 single nucleotide variant NM_172240.2(POC1B):c.810+1G>T 587777694 MedGen:CN219005,OMIM:615973 12 89470360 89470360 C 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 12 89857138 rs6538188 G A rs6538188 3.66E-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 12 89857423 rs3958726 A C rs3958726 3.66E-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 12 89816443 rs770377 T A rs770377 3.76E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 12 89818022 rs770374 T G rs770374 5.30E-05 Pancreatic cancer HPOID:0006725 DOID:1793 G intron GWASdb_trait 12 89824309 rs17016868 G A rs17016868 3.20E-06 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 12 89857138 rs6538188 G A rs6538188 3.66E-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 12 89857423 rs3958726 A C rs3958726 3.66E-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 12 89857423 rs3958726 A C rs3958726 6.40E-171 Blood pressure HPOID:0011025 DOID:10763 A intron GWASdb_trait 12 89876143 rs11105298 T C rs11105298 7.70E-04 Coronary Artery Disease HPOID:0001677 DOID:3393 T intron GWASdb_trait 12 89899103 rs10777177 A C rs10777177 2.80E-04 Lung function (forced expiratory volume in 1 second) HPOID:0002088 DOID:850 A intron GWASdb_trait 12 89908627 rs10777181 T C rs10777181 3.94E-08 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000139323.13 POC1B 614784