rs5051
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal risk |
| (C;T) | increased risk for hypertension | |
| (T;T) | increased risk for hypertension |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 230714126 |
| Gene | AGT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5051 |
| dbSNP (classic) | rs5051 |
| ClinGen | rs5051 |
| ebi | rs5051 |
| HLI | rs5051 |
| Exac | rs5051 |
| Gnomad | rs5051 |
| Varsome | rs5051 |
| LitVar | rs5051 |
| Map | rs5051 |
| PheGenI | rs5051 |
| Biobank | rs5051 |
| 1000 genomes | rs5051 |
| hgdp | rs5051 |
| ensembl | rs5051 |
| geneview | rs5051 |
| scholar | rs5051 |
| rs5051 | |
| pharmgkb | rs5051 |
| gwascentral | rs5051 |
| openSNP | rs5051 |
| 23andMe | rs5051 |
| SNPshot | rs5051 |
| SNPdbe | rs5051 |
| MSV3d | rs5051 |
| GWAS Ctlg | rs5051 |
| GMAF | 0.3356 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs5051 is a SNP in the promoter of the angiotensin AGT gene, and presumably due to it's tight linkage with rs699, the rs5051(T) allele - as oriented to the dbSNP entry, not as published - has been associated with increased risk for hypertension and complications thereof. rs5051(T) is associated with higher plasma angiotensinogen levels, and therefore the increased risk of essential hypertension. The frequency of the rs5051(T) allele is also generally higher in African populations compared to Caucasian populations, correlating to the higher incidence of hypertension in African population.[PMID 15077204
]
rs5051 is also known as "A-6G"; the "A" allele when referred to using this nomenclature is rs5051(T), and the "G" allele is rs5051(C). For more details, see rs699.
rs5051(T;T) homozygotes have been reported to be at increased risk for Crohn's disease, as based on one cohort of ~350 Australian patients. The odds ratio was 2.38 (CI: 1.32-4.32, p=0.007). The authors suggest that association of an AGT SNP with Crohn's disease supports a potential role for angiotensin-converting enzyme inhibitors and angiotensin II receptor antagonists in the treatment of Crohn's disease.[PMID 17047091]
[PMID 22508051] Renin-Angiotensin-aldosterone system gene polymorphisms and coronary artery disease: detection of gene-gene and gene-environment interactions
[PMID 16286570] A population association study of angiotensinogen polymorphisms and haplotypes with left ventricular phenotypes.
[PMID 18076107] Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.
[PMID 19105203] An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.
[PMID 20808897] Disease-associated mutations that alter the RNA structural ensemble.
[PMID 22388798] Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.
[PMID 23716723] The Relationship Between Angiotensinogen Gene Polymorphisms and Essential Hypertension in a Northern Han Chinese Population
[PMID 21859746] Genetic and BMI risks for predicting blood pressure in three generations of West African Dogon women.
[PMID 26142106] Epistatic interaction between common AGT G(-6)A (rs5051) and AGTR1 A1166C (rs5186) variants contributes to variation in kidney size at birth
[PMID 24722536] Relationship of renin-angiotensin-aldosterone system polymorphisms and phenotypes to mortality in Chinese coronary atherosclerosis patients
| ClinVar | |
|---|---|
| Risk | Rs5051(T;T) |
| Alt | Rs5051(T;T) |
| Reference | Rs5051(C;C) |
| Significance | Non-pathogenic |
| Disease | Renal dysplasia |
| Variation | info |
| Gene | AGT |
| CLNDBN | Renal dysplasia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.230849872C>T |
| CLNSRC | |
| CLNACC | RCV000262949.1, |
