rs714948

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GWAS Catalog Trait Associations (7)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

apolipoprotein B measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.06
p 2.0e-64
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.05
p 4.0e-45
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry

total cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.04
p 6.0e-31
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry

C-reactive protein measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.04
p 5.0e-27
N 355,127
Major Consortium StudyLarge GWAS
multi-ancestry

synaptosomal-associated protein 25 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.07
p 1.0e-16
N 47,745
Large GWAS
European

Alzheimer's disease biomarker measurement

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.02
p 4.0e-14
N 568,836
Large GWAS
European

Alzheimer disease

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.02
p 3.0e-11
N 901,954
Large GWAS
European
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Research that mentions this SNP (1)

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A Functional SNP Catalog of Overlapping miRNA-Binding Sites in Genes Implicated in Prion Disease and Other Neurodegenerative Disorders
FunctionalReuben Saba et al.(2014)· Human Mutation

This functional study identifies 119 SNPs in miRNA-binding sites within 3'UTRs of 53 genes implicated in prion disease and other neurodegenerative disorders. The paper uses bioinformatics to predict SNPs affecting miRNA binding and experimentally validates key interactions, particularly rs9291296 in GABRα4 which strengthens miR-26a-5p binding (ΔΔG = 2.3 kcal/mol). The study finds that GABA receptor subunits are notably enriched for miRNA-targeting SNPs.

Traits studied:Alzheimer's diseaseAmyotrophic Lateral SclerosisAutismEpilepsyHuntington's diseaseMood disordersNeurodegenerationNeurodevelopmental disordersParkinson's diseasePrion diseaseSchizophreniaTaupathiesTemporal lobe epilepsy
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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