rs7691791

This is a intron variant variant in the HSD17B11 gene.

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GWAS Catalog Trait Associations (1)

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

vitamin D level

Wang X et al. “Cross-ancestry analyses identify new genetic loci associated with 25-hydroxyvitamin D.” Plos Genetics 19(11):e1011033 (2023)
Allele C
OR 0.02
p 2.0e-14
N 409,654
Large 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

About HSD17B11

Short-chain alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).[supplied by OMIM, Jun 2009]

View all HSD17B11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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