Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 81031 single nucleotide variant NM_002715.2(PPP2CA):c.640C>T (p.Arg214Ter) 148071386 MedGen:CN169374 5 133536124 133536124 G A 81031 single nucleotide variant NM_002715.2(PPP2CA):c.640C>T (p.Arg214Ter) 148071386 MedGen:CN169374 5 134200433 134200433 G A 81031 single nucleotide variant NM_002715.2(PPP2CA):c.640C>T (p.Arg214Ter) 148071386 MedGen:CN169374 5 133564023 133564023 G A 220991 deletion NM_002715.2(PPP2CA):c.922_924delTTC (p.Phe308del) 864622012 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 5 134197778 134197780 GAA - 220991 deletion NM_002715.2(PPP2CA):c.922_924delTTC (p.Phe308del) 864622012 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 5 133533469 133533471 GAA -

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 5 133551445 rs13187105 T G rs13187105 5.54E-05 Pulmonary function in asthmatics HPOID:0005952|HPOID:0002099 DOID:2841 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000113575.9 PPP2CA 176915