rs3803304
| Orientation | minus |
| Stabilized | minus |
| Make rs3803304(C;C) |
| Make rs3803304(C;G) |
| Make rs3803304(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 104772809 |
| Gene | AKT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3803304 |
| dbSNP (classic) | rs3803304 |
| ClinGen | rs3803304 |
| ebi | rs3803304 |
| HLI | rs3803304 |
| Exac | rs3803304 |
| Gnomad | rs3803304 |
| Varsome | rs3803304 |
| LitVar | rs3803304 |
| Map | rs3803304 |
| PheGenI | rs3803304 |
| Biobank | rs3803304 |
| 1000 genomes | rs3803304 |
| hgdp | rs3803304 |
| ensembl | rs3803304 |
| geneview | rs3803304 |
| scholar | rs3803304 |
| rs3803304 | |
| pharmgkb | rs3803304 |
| gwascentral | rs3803304 |
| openSNP | rs3803304 |
| 23andMe | rs3803304 |
| SNPshot | rs3803304 |
| SNPdbe | rs3803304 |
| MSV3d | rs3803304 |
| GWAS Ctlg | rs3803304 |
| GMAF | 0.2057 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs3803304 is an intronic SNP in the AKT1 gene.
rs3803304 was significantly associated with longevity in a meta-analysis across three cohorts (odds ratio 0.78, CI: 0.68-0.89, adjusted p=0.043). An inverse association towards longevity was seen in those homozygous for the minor allele, with these subjects being underrepresented among long-lived (≥92 years old) cases (OR=0.41-0.5, p=0.00016). No significant association was seen in heterozygous subjects, suggesting a recessive pattern of effect. The authors postulate that rs3803304's effects may result from disruptions with an RNA regulatory mechanism, based upon its close proximity to a conserved exon-intron boundary in an area of high predicted regulatory potential. [PMID 19489743
]
[PMID 19164214] Genetic variations in the PI3K/PTEN/AKT/mTOR pathway are associated with clinical outcomes in esophageal cancer patients treated with chemoradiotherapy
[PMID 20132317] Association between AKT1 but not AKTIP genetic variants and increased risk for suicidal behavior in bipolar patients
[PMID 20447721] PI3K/PTEN/AKT/mTOR pathway genetic variation predicts toxicity and distant progression in lung cancer patients receiving platinum-based chemotherapy
[PMID 24421178] PI3K/PTEN/AKT/mTOR pathway genetic variations are associated with the clinical outcome in patients with squamous cell carcinoma of the head and neck receiving cetuximab-docetaxel treatment
[PMID 22113349] Gene set analysis of GWAS data for human longevity highlights the relevance of the insulin/IGF-1 signaling and telomere maintenance pathways.
[PMID 22929028] AKT1 fails to replicate as a longevity-associated gene in Danish and German nonagenarians and centenarians.
[PMID 27305091] Genetic Association of TCF4 and AKT1 Gene Variants with the Age at Onset of Schizophrenia.
[PMID 29103666] Identification of single nucleotide polymorphisms of the PI3K-AKT-mTOR pathway as a risk factor of central nervous system metastasis in metastatic breast cancer.
