rs4994
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | 2x higher risk in certain women for cardiac events; associated with elite endurance performance in men |
| (C;T) | 2x higher risk in certain women for cardiac events; associated with elite endurance performance in men | |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 37966280 |
| Gene | ADRB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4994 |
| dbSNP (classic) | rs4994 |
| ClinGen | rs4994 |
| ebi | rs4994 |
| HLI | rs4994 |
| Exac | rs4994 |
| Gnomad | rs4994 |
| Varsome | rs4994 |
| LitVar | rs4994 |
| Map | rs4994 |
| PheGenI | rs4994 |
| Biobank | rs4994 |
| 1000 genomes | rs4994 |
| hgdp | rs4994 |
| ensembl | rs4994 |
| geneview | rs4994 |
| scholar | rs4994 |
| rs4994 | |
| pharmgkb | rs4994 |
| gwascentral | rs4994 |
| openSNP | rs4994 |
| 23andMe | rs4994 |
| SNPshot | rs4994 |
| SNPdbe | rs4994 |
| MSV3d | rs4994 |
| GWAS Ctlg | rs4994 |
| GMAF | 0.1001 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs4994, also known as Trp64Arg or as the Arg64 variant, is a SNP in the ADRB3 gene. The rs4994(C) allele encodes the variant arginine.
In a study of 600+ women initially referred for coronary angiography and then followed for 6 years, during which time 115 experienced a heart problem, rs4994(C) individuals were calculated to be at higher risk (adjusted hazard ratio 2.10, CI: 1.05-4.24). This risk was due to subtle increases in risk for all of the individual endpoints, and was only seen in women without obstructive coronary artery disease.[PMID 18331634
]
[PMID 19553224] Trp64Arg polymorphism in ADRB3 gene is associated with elite endurance performance
[PMID 19565482] Association of adrenergic receptor gene polymorphisms with different fibromyalgia syndrome domains
[PMID 20503258] Candidate gene association study conditioning on individual ancestry in patients with type 2 diabetes and metabolic syndrome from Mexico City
[PMID 21285172] Positive Correlation Between Beta-3-Adrenergic Receptor (ADRB3) Gene and Gout in a Chinese Male Population
[PMID 22550477] ADRB3 Polymorphism Associated with BMI Gain in Japanese Men
| ClinVar | |
|---|---|
| Risk | Rs4994(C;C) |
| Alt | Rs4994(C;C) |
| Reference | Rs4994(T;T) |
| Significance | Other |
| Disease | Obesity |
| Variation | info |
| Gene | ADRB3 |
| CLNDBN | Obesity |
| Reversed | 1 |
| HGVS | NC_000008.10:g.37823798A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000033197.2, |
[PMID 17512307] Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations.
[PMID 17825092] Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography.
[PMID 18304332] No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins.
[PMID 18426866] Association of FTO with obesity-related traits in the Cebu Longitudinal Health and Nutrition Survey (CLHNS) Cohort.
[PMID 18513389] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 18611262] Genetic variation in candidate obesity genes ADRB2, ADRB3, GHRL, HSD11B1, IRS1, IRS2, and SHC1 and risk for breast cancer in the Cancer Prevention Study II.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19587357] A systematic meta-analysis of genetic association studies for diabetic retinopathy.
[PMID 20028936] Are elite endurance athletes genetically predisposed to lower disease risk?
[PMID 20078877] Gene polymorphisms in association with emerging cardiovascular risk markers in adult women.
[PMID 22391941] Meta-analysis of association studies between five candidate genes and type 2 diabetes in Chinese Han population.
[PMID 22775001] Polymorphisms in Fas gene is associated with HIV-related lipoatrophy in Thai patients
[PMID 24201118] Significant role of ADRB3 rs4994 towards the development of coronary artery disease
[PMID 22858200] Angiotensinogen gene polymorphisms and food-intake behavior in young, normal female subjects in Japan.
[PMID 26410617] Association analysis of the beta-3 adrenergic receptor Trp64Arg (rs4994) polymorphism with urate and gout
[PMID 26410938] [Genetic Association of ADRA2A and ADRB3 Genes with Metabolic Syndrome among the Tatars]
[PMID 31670283] Adrenergic receptor beta-3 rs4994 (T>C) and liver X receptor alpha rs12221497 (G>A) polymorphism in Pakistanis with metabolic syndrome.
