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rs1800206

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;G)
Make rs1800206(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position46218377
GenePPARA
is asnp
is mentioned by
dbSNPrs1800206
ebirs1800206
HLIrs1800206
Exacrs1800206
Varsomers1800206
Maprs1800206
PheGenIrs1800206
hapmaprs1800206
1000 genomesrs1800206
hgdprs1800206
ensemblrs1800206
gopubmedrs1800206
geneviewrs1800206
scholarrs1800206
googlers1800206
pharmgkbrs1800206
gwascentralrs1800206
openSNPrs1800206
23andMers1800206
23andMe allrs1800206
SNP Nexus

SNPshotrs1800206
SNPdbers1800206
MSV3drs1800206
GWAS Ctlgrs1800206
GMAF0.02479
Max Magnitude0
? (C;C) (C;G) (G;G) 28
OMIM170998
Desc
Variant0001
Relatedalso


ClinVar
Risk rs1800206(G;G)
Alt rs1800206(G;G)
Reference rs1800206(C;C)
Significance Other
Disease Hyperapobetalipoproteinemia
Variation info
Gene PPARA
CLNDBN Hyperapobetalipoproteinemia, susceptibility to
Reversed 0
HGVS NC_000022.10:g.46614274C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014700.2,



[PMID 17317762] Single nucleotide polymorphisms of the peroxisome proliferator-activated receptor-alpha gene (PPARA) influence the conversion from impaired glucose tolerance to type 2 diabetes: the STOP-NIDDM trial.


[PMID 17850927] The PPAR-alpha gene in Alzheimer's disease: lack of replication of earlier association.


[PMID 18304332OA-icon.png] No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins.


[PMID 18401448OA-icon.png] PPAR Genomics and Pharmacogenomics: Implications for Cardiovascular Disease.


[PMID 18541586OA-icon.png] Peroxisome proliferator-activated receptor [alpha] genetic variation interacts with n-6 and long-chain n-3 fatty acid intake to affect total cholesterol and LDL-cholesterol concentrations in the Atherosclerosis Risk in Communities Study.


[PMID 18549840OA-icon.png] Cholesterol ester transfer protein, interleukin-8, peroxisome proliferator activator receptor alpha, and Toll-like receptor 4 genetic variations and risk of incident nonfatal myocardial infarction and ischemic stroke.


[PMID 18586686OA-icon.png] Peroxisome proliferator-activated receptor-alpha (PPARA) genetic polymorphisms and breast cancer risk: a Long Island ancillary study.


[PMID 18855529OA-icon.png] Interaction between PPARA genotype and beta-blocker treatment influences clinical outcomes following acute coronary syndromes.


[PMID 19041386OA-icon.png] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.


[PMID 19223982OA-icon.png] Genetic Variability of RXRB, PPARA, and PPARG in Wegener's Granulomatosis.


[PMID 20414453OA-icon.png] PPARalpha: energy combustion, hypolipidemia, inflammation and cancer.


[PMID 20811626OA-icon.png] Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.


[PMID 21430558] Association of the peroxisome proliferator-activated receptor alpha gene L162V polymorphism with stage C heart failure.


[PMID 21487230] Effects of peroxisome proliferator-activated receptors, dietary fat intakes and gene-diet interactions on peak particle diameters of low-density lipoproteins.


[PMID 22378291] PPARgamma2 gene Pro12Ala and PPARalpha gene Leu162Val single nucleotide polymorphisms interact with dietary intake of fat in determination of plasma lipid concentrations.


[PMID 22968028] [Association of both peroxisome proliferator-activated receptor, gene-gene interactions and the body mass index]


GET Evidence
PPARA-L162V
aa_change Leu162Val
aa_change_short L162V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0450827
summary May be associated with the development of stage C heart failure.



[PMID 23262340] Gene-gene interactions among PPARα/δ/γ polymorphisms for hypertriglyceridemia in Chinese Han population


[PMID 23545576OA-icon.png] Association of peroxisome proliferator-activated receptor α/δ/γ with obesity, and gene-gene interaction, in the Chinese Han population


[PMID 23937834] [Effects related to gene-gene interactions of peroxisome proliferator-activated receptor on essential hypertension]


[PMID 24232815] Influence of PPARA, RXRA, NR1I2 and NR1I3 gene polymorphisms on the lipid-lowering efficacy and safety of statin therapy


[PMID 23363867] [Gene-gene interactions among the peroxisome proliferator-activated receptor polymorphisms for hypertriglyceridemia]


[PMID 22920733] Investigation of endocannabinoid system genes suggests association between peroxisome proliferator activator receptor-alpha gene (PPARA) and schizophrenia.


[PMID 25294067] [Association between polymorphisms, haplotypes of peroxisome proliferators activated receptor a gene and the level of lipoprotein (a)]


[PMID 26110145] Gene-Gene Interactions among Pparα/δ/γ Polymorphisms for Apolipoprotein (Apo) A-I/Apob Ratio in Chinese Han Population


[PMID 26268872] [Association and interaction between 10 SNP of peroxisome proliferator-activated receptor and non-HDL-C]


[PMID 24599720] Effect of obesity on the association between common variations in the PPAR gene and C-reactive protein level in Chinese Han population


[PMID 26671228] The association of peroxisome proliferator-activated receptor α with diabetic retinopathy, and additional gene-obesity interaction in Chinese type 2 diabetes mellitus patients.