rs4762
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | normal risk |
(C;T) | 1.9x risk for pre-eclampsia | |
(T;T) | >1.9x risk for pre-eclampsia |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 230710231 |
Gene | AGT |
is a | snp |
is | mentioned by |
dbSNP | rs4762 |
dbSNP (classic) | rs4762 |
ClinGen | rs4762 |
ebi | rs4762 |
HLI | rs4762 |
Exac | rs4762 |
Gnomad | rs4762 |
Varsome | rs4762 |
LitVar | rs4762 |
Map | rs4762 |
PheGenI | rs4762 |
Biobank | rs4762 |
1000 genomes | rs4762 |
hgdp | rs4762 |
ensembl | rs4762 |
geneview | rs4762 |
scholar | rs4762 |
rs4762 | |
pharmgkb | rs4762 |
gwascentral | rs4762 |
openSNP | rs4762 |
23andMe | rs4762 |
SNPshot | rs4762 |
SNPdbe | rs4762 |
MSV3d | rs4762 |
GWAS Ctlg | rs4762 |
GMAF | 0.1038 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
rs4762, a SNP in the angiotensin II AGT gene, has been reported to be associated with increased risk for developing pre-eclampsia, based on a study of ~180 French-Canadian women. The odds ratio associated with the rs4762(T) allele (encoding methionine) was 1.9 (CI:1.2–2.9, p=0.0033).[PMID 14638622]
Note that rs4762 is commonly referred to in the literature as "T174M" or "Thr174Met"; however, databases now indicate that the amino acid that varies is #207 (not 174), as the protein is currently numbered.
rs4762 was also reported to play the major role in the 2.1 fold increased risk (CI: 1.4-3.4, p=0.0008) for pre-eclampsia of the rs3889728(A)-rs4762(T)-rs699(C) haplotype.[PMID 14638622]
[PMID 18653189] Interaction of gender, hypertension, and the angiotensinogen gene haplotypes on the risk of coronary artery disease in a large angiographic cohort
[PMID 21988197] Angiotensinogen gene haplotype is associated with the prevalence of Japanese non-alcoholic steatohepatitis
[PMID 22508051] Renin-Angiotensin-aldosterone system gene polymorphisms and coronary artery disease: detection of gene-gene and gene-environment interactions
[PMID 18196181] Correction of population stratification in large multi-ethnic association studies.
[PMID 18279468] Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure.
[PMID 18637188] RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese population.
[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 19587357] A systematic meta-analysis of genetic association studies for diabetic retinopathy.
[PMID 23594830] Angiotensinogen Polymorphisms and Post-Transplantation Diabetes Mellitus in Korean Renal Transplant Subjects
[PMID 23716723] The Relationship Between Angiotensinogen Gene Polymorphisms and Essential Hypertension in a Northern Han Chinese Population
[PMID 23251296] Assessment of two missense polymorphisms (rs4762 and rs699) of the angiotensinogen gene and stroke.
[PMID 23648704] Allele-specific expression of angiotensinogen in human subcutaneous adipose tissue.
[PMID 25020710] P324Circadian genes in the regulation of lipids in coronary artery disease
[PMID 24722536] Relationship of renin-angiotensin-aldosterone system polymorphisms and phenotypes to mortality in Chinese coronary atherosclerosis patients
[PMID 28271690] Genetic Variation in the Renin-Angiotensin System and Diabetic Nephropathy in the Tunisian Population.
[PMID 28361007] Association of angiotensinogen gene SNPs and haplotypes with risk of hypertension in eastern Indian population.
ClinVar | |
---|---|
Risk | Rs4762(T;T) |
Alt | Rs4762(T;T) |
Reference | Rs4762(C;C) |
Significance | Probable-non-pathogenic |
Disease | Renal dysplasia |
Variation | info |
Gene | AGT |
CLNDBN | Renal dysplasia |
Reversed | 1 |
HGVS | NC_000001.10:g.230845977G>A |
CLNSRC | |
CLNACC | RCV000366681.1, |