PPARGC1A, PPARG coactivator 1 alpha, 10891

N. diseases: 350; N. variants: 42
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17590046
rs17590046
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0270736
Disease:
Essential Tremor 		0.730 GeneticVariation BEFREE Recently, five novel single nucleotide polymorphisms (SNPs), rs10937625 in <i>STK32B</i> (serine/threonine kinase 32B), rs17590046 in <i>PPARGC1A</i> (peroxisome proliferator-activated receptor gamma coactivator 1-alpha), and rs12764057, rs10822974, and rs7903491 in <i>CTNNA3</i> (catenin alpha 3), were found to be associated with increased risk of essential tremor (ET) in a genome-wide association study (GWAS)in individuals of Caucasian ancestry. 29899728 2018
dbSNP: rs17590046
rs17590046
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0270736
Disease:
Essential Tremor 		0.730 GeneticVariation BEFREE And no associations were detected between rs17590046 (genotype p = 0.794; allele p = 0.791), rs12764057 (genotype p = 0.337; allele p = 0.337), rs10822974 (genotype p = 0.102; allele p = 0.100) and ET in Chinese population individually. 28801652 2017
dbSNP: rs17590046
rs17590046
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0270736
Disease:
Essential Tremor 		0.730 GeneticVariation BEFREE After Bonferroni correction two markers, one (rs10937625) located in the serine/threonine kinase STK32B and one (rs17590046) in the transcriptional coactivator PPARGC1A were associated with essential tremor. 27797806 2016
dbSNP: rs17590046
rs17590046
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0270736
Disease:
Essential Tremor 		T 0.730 GeneticVariation GWASCAT Genome-wide association study in essential tremor identifies three new loci. 27797806 2016
dbSNP: rs2970870
rs2970870
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs73243607
rs73243607
Entrez Id: 10891;105374528
Gene Symbol: PPARGC1A;LOC105374528
PPARGC1A;LOC105374528
CUI: C0017654
Disease:
Glomerular Filtration Rate 		C 0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 2019
dbSNP: rs7667050
rs7667050
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs34751092
rs34751092
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0339682
Disease:
Regular astigmatism - corneal 		A 0.700 GeneticVariation GWASCAT A genome-wide association study of corneal astigmatism: The CREAM Consortium. 29422769 2018
dbSNP: rs687706
rs687706
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs687706
rs687706
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs10020457
rs10020457
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs10517030
rs10517030
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs10517031
rs10517031
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs10517032
rs10517032
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs16874420
rs16874420
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2324237
rs2324237
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2324241
rs2324241
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs12501032
rs12501032
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C1821417
Disease:
RESTING HEART RATE 		G 0.700 GeneticVariation GWASCAT Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. 27798624 2016
dbSNP: rs11730701
rs11730701
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0036341
Disease:
Schizophrenia 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
dbSNP: rs188794202
rs188794202
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0338656
Disease:
Impaired cognition 		C 0.700 GeneticVariation GWASCAT Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level. 26252872 2015
dbSNP: rs41359445
rs41359445
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0338656
Disease:
Impaired cognition 		A 0.700 GeneticVariation GWASCAT Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level. 26252872 2015
dbSNP: rs12650199
rs12650199
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs16874921
rs16874921
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs2970855
rs2970855
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs4619879
rs4619879
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013