rs2516448

This is a intron variant variant.

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GWAS Catalog Trait Associations (2)

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

basophil measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.05
p 2.0e-38
N 330,024
Major Consortium StudyLarge GWAS
multi-ancestry

integrin alpha-5 measurement, blood protein amount

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele C
OR 0.95
p 8.0e-33
N 198
Small GWAS
European
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Research that mentions this SNP (1)

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Genome‐wide association study of HPV‐associated cervical cancer in Japanese women
AssociationN=412Kiyonori Miura et al.(2014)· Journal of Medical Virology

A genome-wide association study (GWAS) of 226 Japanese women with cervical cancer and 186 controls identified 89 SNPs with p-value < 10^-4, including rs997363 (p=1.23×10^-6, OR=1.99), rs7780883 (p=2.49×10^-6, OR=3.28), and rs6726538 (p=2.76×10^-6, OR=0.52), but no SNPs met genome-wide significance threshold after multiple-testing correction. Two SNPs, rs621310 and rs11653282, showed weak associations in replication analysis. The study suggests that HPV-associated cervical cancer susceptibility in Japanese women may involve multiple genetic variants with small individual effects, or that larger sample sizes are needed to detect true associations.

Traits studied:Cervical cancer susceptibilityHPV persistenceUterine cervical cancer
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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