Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 39005 deletion PLCG2, 5.9-KB DEL -1 MedGen:C3280914,OMIM:614468,Orphanet:ORPHA300359 na -1 -1 na na 39006 deletion PLCG2, 8.2-KB DEL -1 MedGen:C3280914,OMIM:614468,Orphanet:ORPHA300359 na -1 -1 na na 39007 deletion PLCG2, 4.8-KB DEL -1 MedGen:C3280914,OMIM:614468,Orphanet:ORPHA300359 na -1 -1 na na 48295 single nucleotide variant NM_002661.4(PLCG2):c.2120C>A (p.Ser707Tyr) 397514562 MedGen:C3553961,OMIM:614878,Orphanet:ORPHA324530 16 81953154 81953154 C A 48295 single nucleotide variant NM_002661.4(PLCG2):c.2120C>A (p.Ser707Tyr) 397514562 MedGen:C3553961,OMIM:614878,Orphanet:ORPHA324530 16 81919549 81919549 C A 361601 single nucleotide variant NM_002661.4(PLCG2):c.2497G>A (p.Glu833Lys) 753762025 MedGen:CN221809 16 81927161 81927161 G A 361601 single nucleotide variant NM_002661.4(PLCG2):c.2497G>A (p.Glu833Lys) 753762025 MedGen:CN221809 16 81960766 81960766 G A 361664 single nucleotide variant NM_002661.4(PLCG2):c.3365T>A (p.Phe1122Tyr) -1 MedGen:CN221809 16 81939943 81939943 T A 361664 single nucleotide variant NM_002661.4(PLCG2):c.3365T>A (p.Phe1122Tyr) -1 MedGen:CN221809 16 81973548 81973548 T 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 81920530 rs8055576 G T rs8055576 9.39E-05 INTERFERON ALFA-2B|PEGINTERFERON ALFA-2B POLYETHYLENE GLYCOLS|INTERFERON-ALPHA|IL28B PROTEIN, HUMAN|INTERLEUKINS|RECOMBINANT PROTEINS Response to hepatitis C treatment HPOID:0006562 DOID:1883 A intron GWASdb_drug 16 81960958 rs3813009 G C rs3813009 4.00E-06 IMMUNOGLOBULIN G GLYCOSYLTRANSFERASES IgG glycosylation HPOID:0010701 DOID:2531|DOID:417 G intron GWASdb_drug 16 81960958 rs3813009 G C rs3813009 4.00E-07 IMMUNOGLOBULIN G GLYCOSYLTRANSFERASES IgG glycosylation HPOID:0010701 DOID:2531|DOID:417 G intron GWASdb_drug 16 81980740 rs4284633 A G rs4284633 2.24E-05 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_drug 16 81985595 rs4889448 C T rs4889448 3.95E-05 IMMUNOGLOBULIN G MEX3C PROTEIN, HUMAN|ANTHRAX VACCINES|RNA-BINDING PROTEINS|SUPPRESSOR OF CYTOKINE SIGNALING PROTEINS|ANTIBODIES, BACTERIAL Immune response to anthrax vaccine HPOID:0005368 DOID:7427 T intron GWASdb_drug 16 81822707 rs11864983 A G rs11864983 6.68E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 16 81825054 rs12598194 C T rs12598194 1.74E-05 Bipolar disorder and schizophrenia HPOID:0007302|HPOID:0100753 DOID:3312|DOID:5419 C intron GWASdb_trait 16 81826853 rs4293371 G C rs4293371 6.65E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 16 81866586 rs4889409 G C rs4889409 1.40E-05 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 16 81870969 rs12445050 C T rs12445050 7.80E-06 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 16 81875483 rs13334419 A G rs13334419 1.42E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 16 81884513 rs4497678 C G rs4497678 8.22E-05 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 16 81887541 rs4072683 T C rs4072683 4.26E-04 Myocardial Infarction HPOID:0001658 DOID:5844 T intron GWASdb_trait 16 81902139 rs7189843 G C rs7189843 6.00E-05 Height HPOID:0000002 NA G intron GWASdb_trait 16 81907481 rs4888184 G A rs4888184 5.63E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 16 81907481 rs4888184 G A rs4888184 2.10E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 16 81920530 rs8055576 G T rs8055576 9.39E-05 Response to hepatitis C treatment HPOID:0006562 DOID:1883 A intron GWASdb_trait 16 81924994 rs4889428 C T rs4889428 7.82E-04 Stroke HPOID:0001297 DOID:6713 C intron GWASdb_trait 16 81941319 rs1143689 C T rs1143689 6.06E-05 Left ventricular hypertrophy HPOID:0001712 DOID:11984 C cds-synon GWASdb_trait 16 81955177 rs3922849 C T rs3922849 4.27E-05 Parkinson's disease HPOID:0001300 DOID:14330 C intron GWASdb_trait 16 81955298 rs13331678 T C rs13331678 5.31E-05 Coronary heart disease HPOID:0001677 DOID:3393 T intron GWASdb_trait 16 81958298 rs7192724 C G rs7192724 3.00E-06 Breast cancer (menopausal hormone therapy interaction) HPOID:0003002 DOID:1612 C intron GWASdb_trait 16 81959191 rs17202296 G C rs17202296 2.80E-05 Breast cancer (menopausal hormone therapy interaction) HPOID:0003002 DOID:1612 G intron GWASdb_trait 16 81959952 rs7201045 A G rs7201045 9.02E-05 Ulcerative colitis HPOID:0100279 DOID:8577 G intron GWASdb_trait 16 81960200 rs8063604 A G rs8063604 2.77E-05 Ulcerative colitis HPOID:0100279 DOID:8577 A intron GWASdb_trait 16 81960365 rs12446596 C T rs12446596 2.45E-05 Ulcerative colitis HPOID:0100279 DOID:8577 T intron GWASdb_trait 16 81960958 rs3813009 G C rs3813009 4.00E-06 IgG glycosylation HPOID:0010701 DOID:2531|DOID:417 G intron GWASdb_trait 16 81960958 rs3813009 G C rs3813009 4.00E-07 IgG glycosylation HPOID:0010701 DOID:2531|DOID:417 G intron GWASdb_trait 16 81963618 rs4888190 G T rs4888190 4.50E-05 Breast cancer (menopausal hormone therapy interaction) HPOID:0003002 DOID:1612 T intron GWASdb_trait 16 81980740 rs4284633 A G rs4284633 2.24E-05 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_trait 16 81981176 rs4312298 T G rs4312298 7.00E-06 Alcohol dependence HPOID:0000707 DOID:0050741 G intron GWASdb_trait 16 81982491 rs4889447 T C rs4889447 1.33E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 16 81982624 rs12444401 C G rs12444401 4.76E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 16 81984437 rs4888197 A G rs4888197 1.32E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin) HPOID:0001875|HPOID:0001882 DOID:1227 A intron GWASdb_trait 16 81985595 rs4889448 C T rs4889448 3.95E-05 Parkinson's disease (motor and cognition) HPOID:0001300 DOID:14330 T intron GWASdb_trait 16 81985595 rs4889448 C T rs4889448 3.95E-05 Immune response to anthrax vaccine HPOID:0005368 DOID:7427 T intron GWASdb_trait 16 81989382 rs4888199 G C rs4888199 2.09E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000197943.9 PLCG2 600220