Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 215052 single nucleotide variant NM_001201472.1(CORO7):c.2718+50C>T 864309494 MedGen:C0023462;MedGen:C1334655 16 4355236 4355236 G A 215052 single nucleotide variant NM_001201472.1(CORO7):c.2718+50C>T 864309494 MedGen:C0023462;MedGen:C1334655 16 4405237 4405237 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 16 4404620 rs10974 C T rs10974 9.53E-05 Meningococcal disease HPOID:0001287 DOID:9931 G UTR-3 GWASdb_trait 16 4415410 rs3747575 G T rs3747575 9.46E-05 Coronary Artery Disease HPOID:0001677 DOID:3393 T intron GWASdb_trait 16 4440828 rs12103302 G A rs12103302 0.000706 Height (Pygmy height) NA NA G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000262246.5 CORO7 611668