Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 204622 single nucleotide variant NM_015316.2(PPP1R13B):c.215G>A (p.Arg72Gln) 863223358 MedGen:C0036346 14 104251194 104251194 C T 204622 single nucleotide variant NM_015316.2(PPP1R13B):c.215G>A (p.Arg72Gln) 863223358 MedGen:C0036346 14 103784857 103784857 C 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 14 104283104 rs2368561 A C rs2368561 7.02E-05 Coronary heart disease HPOID:0001677 DOID:3393 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000088808.16 PPP1R13B 606455