rs1052248

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GWAS Catalog Trait Associations (10)

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

self reported educational attainment

Schoeler T et al. “Participation bias in the UK Biobank distorts genetic associations and downstream analyses.” Nature Human Behaviour 7(7):1216-1227 (2023)
Allele A
OR 0.03
p 5.0e-9
N 283,749
Major Consortium StudyLarge GWAS
European

fatty acid amount

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele A
OR —
p 4.0e-14
N 110,346
Large GWAS
European
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Research that mentions this SNP (2)

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Genetic variation in the TLR and NF‐κB pathways and cervical and vulvar cancer risk: A population‐based case–control study
AssociationN=2,493Clara Bodelon et al.(2014)· International Journal of Cancer

Population-based case-control study of 876 cervical cancer cases, 517 vulvar cancer cases, and 1,100 controls examining genetic variation in TLR and NFκB pathways. The TNF region was significantly associated with cervical cancer (gene-based P=2.0×10⁻⁴) and vulvar cancer (gene-based P=1.0×10⁻⁴) risk. The rare A allele of rs2239704 in the LTA gene 5' UTR was significantly associated with increased cervical cancer risk (OR=1.31, 95% CI: 1.15–1.50) and vulvar cancer risk (OR=1.51, 95% CI: 1.30–1.75).

Traits studied:Cervical cancerVulvar cancer
PubMedDOIMetascience Observatory
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Association of TGFβ1 and clinical factors with scar outcome following melanoma excision
AssociationN=202Ward SV et al.(2012)· Archives of Dermatological Research

Genetic association study of 202 melanoma patients examining SNPs in 24 candidate genes related to pigmentation and wound healing in relation to scar outcome. SNP rs8110090 in TGFβ1 was significantly associated with poorer scar outcomes (p=0.0002). Clinical factors including younger age, shorter time since surgery, and presence of infection or eczema were also associated with worse scarring.

Traits studied:Scar heightScar outcome following melanoma excisionScar vascularityWound healing
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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