Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 196414 single nucleotide variant NM_001098398.1(COPA):c.698G>A (p.Arg233His) 794727993 MedGen:C0231330,OMIM:616414 1 160293229 160293229 C T 196414 single nucleotide variant NM_001098398.1(COPA):c.698G>A (p.Arg233His) 794727993 MedGen:C0231330,OMIM:616414 1 160323439 160323439 C T 196415 single nucleotide variant NM_001098398.1(COPA):c.728A>G (p.Asp243Gly) 794727994 MedGen:C0231330,OMIM:616414 1 160283894 160283894 T C 196415 single nucleotide variant NM_001098398.1(COPA):c.728A>G (p.Asp243Gly) 794727994 MedGen:C0231330,OMIM:616414 1 160314104 160314104 T C 196416 single nucleotide variant NM_001098398.1(COPA):c.721G>A (p.Glu241Lys) 794727995 MedGen:C0231330,OMIM:616414 1 160283901 160283901 C T 196416 single nucleotide variant NM_001098398.1(COPA):c.721G>A (p.Glu241Lys) 794727995 MedGen:C0231330,OMIM:616414 1 160314111 160314111 C T 215775 single nucleotide variant NM_001098398.1(COPA):c.690G>T (p.Lys230Asn) 864309710 MedGen:C0231330,OMIM:616414 1 160293237 160293237 C A 215775 single nucleotide variant NM_001098398.1(COPA):c.690G>T (p.Lys230Asn) 864309710 MedGen:C0231330,OMIM:616414 1 160323447 160323447 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 1 160265515 rs3789042 T C rs3789042 8.72E-05 Fibrinogen HPOID:0011898 DOID:1287 A intron GWASdb_trait 1 160278311 rs6699059 A G rs6699059 3.62E-04 Fibrinogen HPOID:0011898 DOID:1287 G intron GWASdb_trait 1 160295829 rs4656896 C T rs4656896 5.58E-05 Alzheimer's disease (age of onset) HPOID:0002511 DOID:10652 C intron GWASdb_trait 1 160296841 rs16831810 G A rs16831810 4.80E-05 Alzheimer's disease (age of onset) HPOID:0002511 DOID:10652 G intron GWASdb_trait 1 160303416 rs1802778 G A rs1802778 3.72E-04 Fibrinogen HPOID:0011898 DOID:1287 T cds-synon GWASdb_trait 1 160310363 rs7512872 A G rs7512872 4.13E-05 Fibrinogen HPOID:0011898 DOID:1287 G intron GWASdb_trait 1 160311845 rs2147471 C A rs2147471 1.01E-04 Fibrinogen HPOID:0011898 DOID:1287 G intron GWASdb_trait 1 160312265 rs10752637 T G rs10752637 9.02E-05 Fibrinogen HPOID:0011898 DOID:1287 G intron GWASdb_trait 1 160312625 rs1324738 C T rs1324738 1.93E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs2066320 1 160275434 160275434 intronic 0.740562 0.130438576399072 GWAS of prostate cancer rs6699059 1 160278311 160278311 intronic 0.272126 0.5652299620163189 GWAS of prostate cancer rs1802778 1 160303416 160303416 exonic 0.229676 0.6388843840480131

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000122218.14 COPA 601924