PPARG
Disease associated variation - ClinVar
Allele IDTypeNameRS#dbSNPPhenotype IDsChromosomeStartStopReferenceAlternate
23169single nucleotide variantNM_138712.3(PPARG):c.254C>A (p.Pro85Gln)1800571MedGen:C0028756,SNOMED CT:C002875631242284812422848CA
23169single nucleotide variantNM_138712.3(PPARG):c.254C>A (p.Pro85Gln)1800571MedGen:C0028756,SNOMED CT:C002875631238134912381349CA
23170single nucleotide variantNM_138712.3(PPARG):c.34C>G (p.Pro12Ala)1805192-31242123812421238CG
23170single nucleotide variantNM_138712.3(PPARG):c.34C>G (p.Pro12Ala)1805192-31237973912379739CG
23171deletionNM_138712.3(PPARG):c.472delA (p.Ser158Valfs)587776687MedGen:C0699790,OMIM:114500,SNOMED CT:C069979031243418812434188A-
23171deletionNM_138712.3(PPARG):c.472delA (p.Ser158Valfs)587776687MedGen:C0699790,OMIM:114500,SNOMED CT:C069979031239268912392689A-
23172single nucleotide variantNM_138712.3(PPARG):c.857A>C (p.Gln286Pro)121909242MedGen:C0699790,OMIM:114500,SNOMED CT:C069979031245832412458324AC
23172single nucleotide variantNM_138712.3(PPARG):c.857A>C (p.Gln286Pro)121909242MedGen:C0699790,OMIM:114500,SNOMED CT:C069979031241682512416825AC
23173single nucleotide variantNM_138712.3(PPARG):c.955A>T (p.Lys319Ter)121909243MedGen:C0699790,OMIM:114500,SNOMED CT:C069979031245842212458422AT
23173single nucleotide variantNM_138712.3(PPARG):c.955A>T (p.Lys319Ter)121909243MedGen:C0699790,OMIM:114500,SNOMED CT:C069979031241692312416923AT
23174single nucleotide variantNM_138712.3(PPARG):c.863G>A (p.Arg288His)28936407MedGen:C0699790,OMIM:114500,SNOMED CT:C069979031245833012458330GA
23174single nucleotide variantNM_138712.3(PPARG):c.863G>A (p.Arg288His)28936407MedGen:C0699790,OMIM:114500,SNOMED CT:C069979031241683112416831GA
23175single nucleotide variantNM_015869.4(PPARG):c.1484C>T (p.Pro495Leu)121909244MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431247561012475610CT
23175single nucleotide variantNM_015869.4(PPARG):c.1484C>T (p.Pro495Leu)121909244MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431243411112434111CT
23176single nucleotide variantNM_138712.3(PPARG):c.868G>A (p.Val290Met)72551362MedGen:C1720861,OMIM:604367,Orphanet:ORPHA7908331245833512458335GA
23176single nucleotide variantNM_138712.3(PPARG):c.868G>A (p.Val290Met)72551362MedGen:C1720861,OMIM:604367,Orphanet:ORPHA7908331241683612416836GA
23177single nucleotide variantPPARG, 161C-T-1-na-1-1nana
23178single nucleotide variantNM_015869.4(PPARG):c.1431C>T (p.His477=)3856806MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C2750850,OMIM:137800;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754;MedGen:CN16937431247555712475557CT
23178single nucleotide variantNM_015869.4(PPARG):c.1431C>T (p.His477=)3856806MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C2750850,OMIM:137800;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754;MedGen:CN16937431243405812434058CT
23179indelPPARG, 3-BP DEL/1-BP INS, NT553-1MedGen:CN069127;MedGen:C4017629na-1-1nana
23180single nucleotide variantNM_138712.3(PPARG):c.1080T>A (p.Phe360Leu)72551363MedGen:C1720861,OMIM:604367,Orphanet:ORPHA7908331245854712458547TA
23180single nucleotide variantNM_138712.3(PPARG):c.1080T>A (p.Phe360Leu)72551363MedGen:C1720861,OMIM:604367,Orphanet:ORPHA7908331241704812417048TA
23181single nucleotide variantNM_138712.3(PPARG):c.1189C>T (p.Arg397Cys)72551364MedGen:C1720861,OMIM:604367,Orphanet:ORPHA7908331247539912475399CT
23181single nucleotide variantNM_138712.3(PPARG):c.1189C>T (p.Arg397Cys)72551364MedGen:C1720861,OMIM:604367,Orphanet:ORPHA7908331243390012433900CT
23182single nucleotide variantNM_138712.3(PPARG):c.484T>A (p.Cys162Ser)121909245MedGen:C1720861,OMIM:604367,Orphanet:ORPHA7908331243420012434200TA
23182single nucleotide variantNM_138712.3(PPARG):c.484T>A (p.Cys162Ser)121909245MedGen:C1720861,OMIM:604367,Orphanet:ORPHA7908331239270112392701TA
23183single nucleotide variantNM_138712.3(PPARG):c.496C>T (p.Arg166Trp)121909246MedGen:C1720861,OMIM:604367,Orphanet:ORPHA7908331243421212434212CT
23183single nucleotide variantNM_138712.3(PPARG):c.496C>T (p.Arg166Trp)121909246MedGen:C1720861,OMIM:604367,Orphanet:ORPHA7908331239271312392713CT
135464single nucleotide variantNM_015869.4(PPARG):c.1348A>C (p.Lys450Gln)587780424MedGen:CN22180931247547412475474AC
135464single nucleotide variantNM_015869.4(PPARG):c.1348A>C (p.Lys450Gln)587780424MedGen:CN22180931243397512433975AC
135465single nucleotide variantNM_015869.4(PPARG):c.34C>G (p.Pro12Ala)1801282MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754;MedGen:CN16937431235162612351626CG
135465single nucleotide variantNM_015869.4(PPARG):c.34C>G (p.Pro12Ala)1801282MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754;MedGen:CN16937431239312512393125CG
207033single nucleotide variantNM_015869.4(PPARG):c.669G>A (p.Ala223=)751812338MedGen:CN16937431240593112405931GA
207033single nucleotide variantNM_015869.4(PPARG):c.669G>A (p.Ala223=)751812338MedGen:CN16937431244743012447430GA
288404single nucleotide variantNM_015869.4(PPARG):c.240C>T (p.Asp80=)112174008MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431242136012421360CT
288404single nucleotide variantNM_015869.4(PPARG):c.240C>T (p.Asp80=)112174008MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431237986112379861CT
288413single nucleotide variantNM_015869.4(PPARG):c.288C>T (p.Asp96=)753817211MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431237990912379909CT
288413single nucleotide variantNM_015869.4(PPARG):c.288C>T (p.Asp96=)753817211MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431242140812421408CT
288431single nucleotide variantNM_015869.4(PPARG):c.507G>A (p.Leu169=)41415646MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431239264012392640GA
288431single nucleotide variantNM_015869.4(PPARG):c.507G>A (p.Leu169=)41415646MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431243413912434139GA
288432single nucleotide variantNM_015869.4(PPARG):c.1206C>A (p.Phe402Leu)886057902MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431241709012417090CA
288432single nucleotide variantNM_015869.4(PPARG):c.1206C>A (p.Phe402Leu)886057902MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431245858912458589CA
289177single nucleotide variantNM_015869.4(PPARG):c.481-3C>T370830238MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431239261112392611CT
289177single nucleotide variantNM_015869.4(PPARG):c.481-3C>T370830238MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431243411012434110CT
292190single nucleotide variantNM_015869.4(PPARG):c.-22C>T200479885MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431235157112351571CT
292190single nucleotide variantNM_015869.4(PPARG):c.-22C>T200479885MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431239307012393070CT
292296single nucleotide variantNM_015869.4(PPARG):c.438T>C (p.Ala146=)147975759MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431242294812422948TC
292296single nucleotide variantNM_015869.4(PPARG):c.438T>C (p.Ala146=)147975759MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431238144912381449TC
292303single nucleotide variantNM_015869.4(PPARG):c.891C>G (p.Pro297=)13306747MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431241677512416775CG
292303single nucleotide variantNM_015869.4(PPARG):c.891C>G (p.Pro297=)13306747MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431245827412458274CG
292305single nucleotide variantNM_015869.4(PPARG):c.1371A>G (p.Ser457=)41516544MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431243399812433998AG
292305single nucleotide variantNM_015869.4(PPARG):c.1371A>G (p.Ser457=)41516544MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431247549712475497AG
292306single nucleotide variantNM_015869.4(PPARG):c.1452C>T (p.Ile484=)149367249MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431243407912434079CT
292306single nucleotide variantNM_015869.4(PPARG):c.1452C>T (p.Ile484=)149367249MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431247557812475578CT
292310single nucleotide variantNM_015869.4(PPARG):c.1509C>T (p.Asp503=)886057903MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431243413612434136CT
292310single nucleotide variantNM_015869.4(PPARG):c.1509C>T (p.Asp503=)886057903MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C002875431247563512475635CT
Disease associated variation - GWASdb
ChrPosSNP ID(dbSNP 142)RefAltOri SNP IDP-valueDrug NameDrug AnnoGWAS TraitHPO IDDO IDAATypeTrait or Drug
312408278rs2938397AGrs29383978.30E-05ROSUVASTATINFLUOROBENZENES|PYRIMIDINES|SULFONAMIDES|1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASELipoprotein-associated phospholipase A2 activity change in response to statin therapyHPOID:0010979DOID:3393|DOID:1936TintronGWASdb_drug
312329783rs17036160CTrs170361600.00000787Type 2 diabetesHPOID:0005978DOID:9352CintronGWASdb_trait
312330411rs17036170GArs170361702.00E-08Drug-induced liver injuryHPOID:0001392DOID:2044GintronGWASdb_trait
312334416rs2972164TCrs29721640.00003Coronary artery calcificationHPOID:0001677DOID:3393CintronGWASdb_trait
312336507rs11709077GArs117090775.10E-04Multiple complex diseasesHPOID:0000118NAGintronGWASdb_trait
312336507rs11709077GArs117090776.98E-04Alzheimer's diseaseHPOID:0002511DOID:10652GintronGWASdb_trait
312336507rs11709077GArs117090770.000000011Type 2 diabetes (females)HPOID:0005978DOID:9352GintronGWASdb_trait
312336507rs11709077GArs117090770.00000015Type 2 diabetes (males)HPOID:0005978DOID:9352GintronGWASdb_trait
312338849rs4684846AGrs46848460.00037Coronary artery calcificationHPOID:0001677DOID:3393AintronGWASdb_trait
312342861rs12631819GTrs126318190.00000835HDL cholesterolHPOID:0003107DOID:14502|DOID:1461|DOID:3393GintronGWASdb_trait
312343117rs11128596ACrs111285960.00027Coronary artery calcificationHPOID:0001677DOID:3393CintronGWASdb_trait
312351223rs12485478AGrs124854780.0000359HDL cholesterolHPOID:0003107DOID:14502|DOID:1461|DOID:3393AintronGWASdb_trait
312356158rs12496505GArs124965050.00029Coronary artery calcificationHPOID:0001677DOID:3393GintronGWASdb_trait
312358492rs13433696GArs134336960.00029Coronary artery calcificationHPOID:0001677DOID:3393AintronGWASdb_trait
312363358rs7646510AGrs76465102.05E-08LDL cholesterolHPOID:0010979DOID:1936|DOID:3393AintronGWASdb_trait
312368038rs3892175GArs38921759.96E-04Alzheimer's diseaseHPOID:0002511DOID:10652GintronGWASdb_trait
312371082rs12496005GCrs124960050.00021Coronary artery calcificationHPOID:0001677DOID:3393AintronGWASdb_trait
312384542rs12490265GArs124902652.10E-05Urinary metabolitesHPOID:0000079DOID:557GintronGWASdb_trait
312384599rs17036321TCrs170363217.44E-08LDL cholesterolHPOID:0010979DOID:1936|DOID:3393TintronGWASdb_trait
312385828rs11128603AGrs111286039.00E-08Plasminogen activator inhibitor type 1 levels (PAI-1)HPOID:0005978|HPOID:0001677DOID:9352|DOID:3393AintronGWASdb_trait
312390484rs17036328TCrs170363283.46E-04Multiple complex diseasesHPOID:0000118NATintronGWASdb_trait
312390484rs17036328TCrs170363283.59E-12Fasting insulin-related traitsHPOID:0008283DOID:9352TintronGWASdb_trait
312392272rs7649970CTrs76499700.00000454Type 2 diabetesHPOID:0005978DOID:9352CintronGWASdb_trait
312393125rs1801282CGrs18012822.00E-06Type 2 diabetesHPOID:0005978DOID:9352CmissenseGWASdb_trait
312393125rs1801282CGrs18012822.00E-06Type 2 diabetesHPOID:0005978DOID:9352CmissenseGWASdb_trait
312393125rs1801282CGrs18012822.00E-06Type 2 diabetesHPOID:0005978DOID:9352CmissenseGWASdb_trait
312393125rs1801282CGrs18012822.31E-04Alzheimer's diseaseHPOID:0002511DOID:10652CmissenseGWASdb_trait
312393125rs1801282CGrs18012822.00E-06Coronary heart diseaseHPOID:0001677DOID:3393CmissenseGWASdb_trait
312393125rs1801282CGrs18012822.00E-06Type 2 diabetesHPOID:0005978DOID:9352CmissenseGWASdb_trait
312393125rs1801282CGrs18012820.0000215Type 2 diabetesHPOID:0005978DOID:9352CmissenseGWASdb_trait
312393125rs1801282CGrs18012822.00E-07Fasting insulin-related traits (interaction with BMI)HPOID:0008283DOID:9352CmissenseGWASdb_trait
312393125rs1801282CGrs18012820.00033Fasting insulin-related traitsHPOID:0008283DOID:9352CmissenseGWASdb_trait
312393125rs1801282CGrs18012821.10E-12Type 2 diabetesHPOID:0005978DOID:9352CmissenseGWASdb_trait
312393125rs1801282CGrs18012821.40E-07Plasminogen activator inhibitor type 1 levels (PAI-1)HPOID:0005978|HPOID:0001677DOID:9352|DOID:3393CmissenseGWASdb_trait
312393125rs1801282CGrs18012821.70E-06Type 2 diabetesHPOID:0005978DOID:9352CmissenseGWASdb_trait
312393125rs1801282CGrs18012826.00E-10Type 2 diabetesHPOID:0005978DOID:9352CmissenseGWASdb_trait
312394840rs1899951CTrs18999510.00000037Type 2 diabetesHPOID:0005978DOID:9352AintronGWASdb_trait
312408278rs2938397AGrs29383978.30E-05Lipoprotein-associated phospholipase A2 activity change in response to statin therapyHPOID:0010979DOID:3393|DOID:1936TintronGWASdb_trait
312410290rs73025249GArs730252490.0000217Menopause (age at onset)HPOID:0100805DOID:9970|DOID:9352|DOID:1287|DOID:11476|DOID:1612|DOID:10652GintronGWASdb_trait
312421056rs13306745GTrs133067453.50E-17HDL cholesterolHPOID:0003107DOID:14502|DOID:1461|DOID:3393GintronGWASdb_trait
312437237rs4135268CGrs41352689.20E-06Memory performanceHPOID:0002354DOID:1561CintronGWASdb_trait
312443844rs4135275AGrs41352751.35E-04Alcohol dependenceHPOID:0000707DOID:0050741AintronGWASdb_trait
312447268rs73027210GArs730272100.0000217Menopause (age at onset)HPOID:0100805DOID:9970|DOID:9352|DOID:1287|DOID:11476|DOID:1612|DOID:10652GintronGWASdb_trait
312454621rs114451007ATrs1144510070.0000093Menopause (age at onset)HPOID:0100805DOID:9970|DOID:9352|DOID:1287|DOID:11476|DOID:1612|DOID:10652AintronGWASdb_trait
312468627rs17036700GTrs170367002.44E-04Multiple complex diseasesHPOID:0000118NAGintronGWASdb_trait
312470239rs1797912ACrs17979120.0000548Type 2 diabetesHPOID:0005978DOID:9352CintronGWASdb_trait
312470663rs4135361GArs41353615.22E-11LDL cholesterolHPOID:0010979DOID:1936|DOID:3393GintronGWASdb_trait
312475088rs7626560CTrs76265602.40E-05Urinary metabolitesHPOID:0000079DOID:557TintronGWASdb_trait
312475162rs7650895ACrs76508952.40E-05Urinary metabolitesHPOID:0000079DOID:557CintronGWASdb_trait
Disease associated variation - OMIM
Ensembl_gene_ID Approved Gene Symbol MIM Number
ENSG00000132170.19 PPARG 601487