Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 20653 NT expansion NM_181675.3(PPP2R2B):c.27_29CAG(7_28) (p.Ser17_Ser19del) 193922942 MedGen:C1858501,OMIM:604326,Orphanet:ORPHA98762 5 146258292 146258294 CTG na 20653 NT expansion NM_181675.3(PPP2R2B):c.27_29CAG(7_28) (p.Ser17_Ser19del) 193922942 MedGen:C1858501,OMIM:604326,Orphanet:ORPHA98762 5 146878729 146878731 CTG na 215310 duplication NM_181675.3(PPP2R2B):c.43_57dupAGCAGCAGCAGCAGC (p.Ser19_Cys20insSerSerSerSerSer) 142461655 MedGen:CN169374 5 146258291 146258305 GCTGCTGCTGCTGCT GCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 215310 duplication NM_181675.3(PPP2R2B):c.43_57dupAGCAGCAGCAGCAGC (p.Ser19_Cys20insSerSerSerSerSer) 142461655 MedGen:CN169374 5 146878728 146878742 GCTGCTGCTGCTGCT GCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 246976 deletion NM_181674.2(PPP2R2B):c.115delC (p.Leu39Serfs) 879255435 MedGen:CN169374 5 146257718 146257718 G - 246976 deletion NM_181674.2(PPP2R2B):c.115delC (p.Leu39Serfs) 879255435 MedGen:CN169374 5 146878155 146878155 G -

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 146169511 rs160974 A G rs160974 7.06E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 A intron GWASdb_drug 5 146207456 rs319152 T C rs319152 6.51E-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 G intron GWASdb_drug 5 146225244 rs609412 A G rs609412 3.99E-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 G intron GWASdb_drug 5 145972189 rs167723 T G rs167723 1.29E-04 Insulin resistance HPOID:0000855 DOID:9352 C intron GWASdb_trait 5 145974943 rs322475 T A rs322475 2.65E-04 Insulin resistance HPOID:0000855 DOID:9352 A intron GWASdb_trait 5 145986083 rs715891 C T rs715891 6.86E-06 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 5 146028540 rs1530419 A C rs1530419 1.93E-08 Schizophrenia HPOID:0100753 DOID:5419 T intron GWASdb_trait 5 146032060 rs1663333 A C rs1663333 6.10E-04 Heart Failure HPOID:0001635 DOID:6000 T intron GWASdb_trait 5 146046418 rs3096085 G A rs3096085 8.50E-04 Crohn's disease HPOID:0100280 DOID:8778 A intron GWASdb_trait 5 146111707 rs3910815 C T rs3910815 4.81E-04 Schizophrenia HPOID:0100753 DOID:5419 T intron GWASdb_trait 5 146126245 rs7715375 G A rs7715375 4.06E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs) HPOID:0001875|HPOID:0001882 DOID:1227 A intron GWASdb_trait 5 146153055 rs249904 T C rs249904 3.77E-04 Longevity HPOID:0000118 NA T intron GWASdb_trait 5 146169511 rs160974 A G rs160974 7.06E-04 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 A intron GWASdb_trait 5 146205786 rs9325024 A G rs9325024 1.70E-05 Breast cancer and prostate cancer HPOID:0003002|HPOID:0012125 DOID:1612|DOID:10283 A intron GWASdb_trait 5 146207456 rs319152 T C rs319152 6.51E-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 G intron GWASdb_trait 5 146225244 rs609412 A G rs609412 3.99E-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 G intron GWASdb_trait 5 146225244 rs609412 A G rs609412 2.00E-06 Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) HPOID:0000729|HPOID:0007018|HPOID:0007302|HPOID:0100753 DOID:0060041|DOID:1094|DOID:3312|DOID:1470|DOID:5419 G intron GWASdb_trait 5 146229102 rs10037107 A G rs10037107 1.70E-04 Alcohol dependence HPOID:0000707 DOID:0050741 A intron GWASdb_trait 5 146275313 rs319175 C G rs319175 0.000437 Breast cancer early age of onset HPOID:0003002 DOID:1612 G intron GWASdb_trait 5 146284693 rs563943 C T rs563943 0.000437 Breast cancer early age of onset HPOID:0003002 DOID:1612 A intron GWASdb_trait 5 146307423 rs319138 G A rs319138 0.000287 Breast cancer early age of onset HPOID:0003002 DOID:1612 T intron GWASdb_trait 5 146320823 rs1864982 G T rs1864982 3.00E-06 Alcohol dependence HPOID:0000707 DOID:0050741 C intron GWASdb_trait 5 146337694 rs7726431 G A rs7726431 1.54E-04 Insulin resistance HPOID:0000855 DOID:9352 A intron GWASdb_trait 5 146337743 rs13170982 G A rs13170982 2.60E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 5 146344847 rs17105791 A C rs17105791 1.00E-04 Information processing speed HPOID:0100753|HPOID:0000716 DOID:1561 A intron GWASdb_trait 5 146415216 rs9325032 C T rs9325032 3.00E-06 Cognitive test performance HPOID:0100543 DOID:1561 C intron GWASdb_trait 5 146429843 rs1031915 C T rs1031915 8.51E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 5 146436304 rs11746185 A C rs11746185 6.46E-05 IgE levels HPOID:0010701 DOID:6024 A intron GWASdb_trait 5 146436523 rs11167957 C T rs11167957 6.42E-05 IgE levels HPOID:0010701 DOID:6024 C intron GWASdb_trait 5 146437636 rs7724608 G A rs7724608 3.09E-05 IgE levels HPOID:0010701 DOID:6024 G intron GWASdb_trait 5 146454825 rs1480150 C T rs1480150 6.07E-05 Heart Rate HPOID:0005150|HPOID:0001645|HPOID:0001644|HPOID:0011704|HPOID:0005110 DOID:10273 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000156475.18 PPP2R2B 604325