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rs3803304

From SNPedia

Orientationminus
Stabilizedminus
Make rs3803304(C;C)
Make rs3803304(C;G)
Make rs3803304(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position104772809
GeneAKT1
is asnp
is mentioned by
dbSNPrs3803304
ebirs3803304
HLIrs3803304
Exacrs3803304
Varsomers3803304
Maprs3803304
PheGenIrs3803304
hapmaprs3803304
1000 genomesrs3803304
hgdprs3803304
ensemblrs3803304
gopubmedrs3803304
geneviewrs3803304
scholarrs3803304
googlers3803304
pharmgkbrs3803304
gwascentralrs3803304
openSNPrs3803304
23andMers3803304
23andMe allrs3803304
SNP Nexus

SNPshotrs3803304
SNPdbers3803304
MSV3drs3803304
GWAS Ctlgrs3803304
GMAF0.2057
Max Magnitude
? (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 19489743OA-icon.png]


[PMID 19164214OA-icon.png] 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 20447721OA-icon.png] 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 22113349OA-icon.png] Gene set analysis of GWAS data for human longevity highlights the relevance of the insulin/IGF-1 signaling and telomere maintenance pathways.


[PMID 22929028OA-icon.png] 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.