Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 31043 single nucleotide variant GNB3, 825C-T -1 - na -1 -1 na na 227813 single nucleotide variant NM_002075.3(GNB3):c.825C>T (p.Ser275=) 5443 MedGen:CN236581 12 6845711 6845711 C T 227813 single nucleotide variant NM_002075.3(GNB3):c.825C>T (p.Ser275=) 5443 MedGen:CN236581 12 6954875 6954875 C T 244066 single nucleotide variant NM_002075.3(GNB3):c.1017G>A (p.Trp339Ter) 879253773 MedGen:CN237389,OMIM:617024 12 6956056 6956056 G A 244066 single nucleotide variant NM_002075.3(GNB3):c.1017G>A (p.Trp339Ter) 879253773 MedGen:CN237389,OMIM:617024 12 6846892 6846892 G A 244067 deletion NM_002075.3(GNB3):c.170_172delAGA (p.Lys57del) 879253774 MedGen:CN237389,OMIM:617024 12 6952207 6952209 AGA - 244067 deletion NM_002075.3(GNB3):c.170_172delAGA (p.Lys57del) 879253774 MedGen:CN237389,OMIM:617024 12 6843043 6843045 AGA - 244068 single nucleotide variant NM_002075.3(GNB3):c.200C>T (p.Ser67Phe) 140263599 MedGen:CN237389,OMIM:617024 12 6952237 6952237 C T 244068 single nucleotide variant NM_002075.3(GNB3):c.200C>T (p.Ser67Phe) 140263599 MedGen:CN237389,OMIM:617024 12 6843073 6843073 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 12 6954875 rs5443 C T rs5443 1 SILDENAFIL SULFONES|PIPERAZINES|VASODILATOR AGENTS|PHOSPHODIESTERASE INHIBITORS|HETEROTRIMERIC GTP-BINDING PROTEINS|PROTEIN SUBUNITS|G-PROTEIN BETA3 SUBUNIT|PURINES Drug response to Sildenafil NA NA C cds-synon GWASdb_drug 12 6954875 rs5443 C T rs5443 1 ALMOTRIPTAN DOPAMINE AGONISTS|RECEPTOR, SEROTONIN, 5-HT1D|HETEROTRIMERIC GTP-BINDING PROTEINS|RECEPTOR, SEROTONIN, 5-HT1B|G-PROTEIN BETA3 SUBUNIT|TRYPTAMINES|SEROTONIN 5-HT1 RECEPTOR AGONISTS Drug response to Almotriptan NA NA C cds-synon GWASdb_drug 12 6954875 rs5443 C T rs5443 1 ELETRIPTAN DOPAMINE AGONISTS|RECEPTOR, SEROTONIN, 5-HT1D|HETEROTRIMERIC GTP-BINDING PROTEINS|RECEPTOR, SEROTONIN, 5-HT1B|G-PROTEIN BETA3 SUBUNIT|TRYPTAMINES|SEROTONIN 5-HT1 RECEPTOR AGONISTS Drug response to Eletriptan NA NA C cds-synon GWASdb_drug 12 6954875 rs5443 C T rs5443 1 NARATRIPTAN DOPAMINE AGONISTS|RECEPTOR, SEROTONIN, 5-HT1D|HETEROTRIMERIC GTP-BINDING PROTEINS|RECEPTOR, SEROTONIN, 5-HT1B|G-PROTEIN BETA3 SUBUNIT|TRYPTAMINES|SEROTONIN 5-HT1 RECEPTOR AGONISTS Drug response to Naratriptan NA NA C cds-synon GWASdb_drug 12 6954875 rs5443 C T rs5443 1 RIZATRIPTAN DOPAMINE AGONISTS|RECEPTOR, SEROTONIN, 5-HT1D|HETEROTRIMERIC GTP-BINDING PROTEINS|RECEPTOR, SEROTONIN, 5-HT1B|G-PROTEIN BETA3 SUBUNIT|TRYPTAMINES|SEROTONIN 5-HT1 RECEPTOR AGONISTS Drug response to Rizatriptan NA NA C cds-synon GWASdb_drug 12 6954875 rs5443 C T rs5443 1 SUMATRIPTAN DOPAMINE AGONISTS|RECEPTOR, SEROTONIN, 5-HT1D|HETEROTRIMERIC GTP-BINDING PROTEINS|RECEPTOR, SEROTONIN, 5-HT1B|G-PROTEIN BETA3 SUBUNIT|TRYPTAMINES|SEROTONIN 5-HT1 RECEPTOR AGONISTS Drug response to Sumatriptan NA NA C cds-synon GWASdb_drug 12 6954875 rs5443 C T rs5443 1 ZOLMITRIPTAN DOPAMINE AGONISTS|RECEPTOR, SEROTONIN, 5-HT1D|HETEROTRIMERIC GTP-BINDING PROTEINS|RECEPTOR, SEROTONIN, 5-HT1B|G-PROTEIN BETA3 SUBUNIT|TRYPTAMINES|SEROTONIN 5-HT1 RECEPTOR AGONISTS Drug response to Zolmitriptan NA NA C cds-synon GWASdb_drug 12 6954875 rs5443 C T rs5443 1 ATORVASTATIN ANTIHYPERTENSIVE AGENTS|HETEROTRIMERIC GTP-BINDING PROTEINS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|G-PROTEIN BETA3 SUBUNIT|ANTICHOLESTEREMIC AGENTS Drug response to Atorvastatin NA NA C cds-synon GWASdb_drug 12 6954875 rs5443 C T rs5443 1 FLUVASTATIN ANTIHYPERTENSIVE AGENTS|HETEROTRIMERIC GTP-BINDING PROTEINS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|G-PROTEIN BETA3 SUBUNIT|ANTICHOLESTEREMIC AGENTS Drug response to Fluvastatin NA NA C cds-synon GWASdb_drug 12 6954875 rs5443 C T rs5443 1 LOVASTATIN ANTIHYPERTENSIVE AGENTS|HETEROTRIMERIC GTP-BINDING PROTEINS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|G-PROTEIN BETA3 SUBUNIT|ANTICHOLESTEREMIC AGENTS Drug response to Lovastatin NA NA C cds-synon GWASdb_drug 12 6954875 rs5443 C T rs5443 1 PRAVASTATIN ANTIHYPERTENSIVE AGENTS|HETEROTRIMERIC GTP-BINDING PROTEINS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|G-PROTEIN BETA3 SUBUNIT|ANTICHOLESTEREMIC AGENTS Drug response to Pravastatin NA NA C cds-synon GWASdb_drug 12 6954875 rs5443 C T rs5443 1 ROSUVASTATIN ANTIHYPERTENSIVE AGENTS|HETEROTRIMERIC GTP-BINDING PROTEINS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|G-PROTEIN BETA3 SUBUNIT|ANTICHOLESTEREMIC AGENTS Drug response to Rosuvastatin NA NA C cds-synon GWASdb_drug 12 6954875 rs5443 C T rs5443 1 SIMVASTATIN ANTIHYPERTENSIVE AGENTS|HETEROTRIMERIC GTP-BINDING PROTEINS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|G-PROTEIN BETA3 SUBUNIT|ANTICHOLESTEREMIC AGENTS Drug response to Simvastatin NA NA C cds-synon GWASdb_drug 12 6954875 rs5443 C T rs5443 1 OLANZAPINE RECEPTOR, SEROTONIN, 5-HT2C|ANTIPSYCHOTIC AGENTS|BENZODIAZEPINES|HETEROTRIMERIC GTP-BINDING PROTEINS|RECEPTORS, ADRENERGIC, BETA-3|G-PROTEIN BETA3 SUBUNIT|RECEPTOR, SEROTONIN, 5-HT2A Drug response to Olanzapine NA NA C cds-synon GWASdb_drug 12 6954624 rs2301339 G A rs2301339 6.30E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 12 6954875 rs5443 C T rs5443 1 Drug response to Sildenafil (Viagra) NA NA C cds-synon GWASdb_trait 12 6954875 rs5443 C T rs5443 1 Drug response to Almotriptan NA NA C cds-synon GWASdb_trait 12 6954875 rs5443 C T rs5443 1 Drug response to Eletriptan NA NA C cds-synon GWASdb_trait 12 6954875 rs5443 C T rs5443 1 Drug response to Naratriptan NA NA C cds-synon GWASdb_trait 12 6954875 rs5443 C T rs5443 1 Drug response to Rizatriptan NA NA C cds-synon GWASdb_trait 12 6954875 rs5443 C T rs5443 1 Drug response to Sumatriptan NA NA C cds-synon GWASdb_trait 12 6954875 rs5443 C T rs5443 1 Drug response to Zolmitriptan NA NA C cds-synon GWASdb_trait 12 6954875 rs5443 C T rs5443 1 Drug response to Atorvastatin NA NA C cds-synon GWASdb_trait 12 6954875 rs5443 C T rs5443 1 Drug response to Fluvastatin NA NA C cds-synon GWASdb_trait 12 6954875 rs5443 C T rs5443 1 Drug response to Lovastatin NA NA C cds-synon GWASdb_trait 12 6954875 rs5443 C T rs5443 1 Drug response to Pravastatin NA NA C cds-synon GWASdb_trait 12 6954875 rs5443 C T rs5443 1 Drug response to Rosuvastatin NA NA C cds-synon GWASdb_trait 12 6954875 rs5443 C T rs5443 1 Drug response to Simvastatin NA NA C cds-synon GWASdb_trait 12 6954875 rs5443 C T rs5443 1 Drug response to Olanzapine NA NA C cds-synon GWASdb_trait 12 6956462 rs5446 C T rs5446 1.40E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 C UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000111664.10 GNB3 139130