rs7216214

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GWAS Catalog Trait Associations (1)

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

mitochondrial DNA measurement

Gupta R et al. “Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.” Nature 620(7975):839-848 (2023)
Allele C
OR 0.05
p 3.0e-19
N 163,372
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Consortium analysis of gene and gene–folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk
AssociationN=36,045Linda E. Kelemen et al.(2014)· Molecular Nutrition &amp; Food Research

Consortium analysis of 13,410 ovarian cancer cases and 22,635 controls examining 446 genetic variants in folate metabolism and purine/pyrimidine pathways. The strongest associations were DPYD rs11587873 (OR=0.92, p=6×10⁻⁵) and rs828054 (OR=1.06, p=1×10⁻⁴). While 13 pyrimidine metabolism variants showed significant folate intake interactions, they explained only 0.2% of ovarian carcinoma risk, suggesting limited clinical utility for folate-stratified risk modification.

Traits studied:Clear cell ovarian cancerEndometrioid ovarian cancerHigh-grade serous ovarian cancerLow-grade serous ovarian cancerMucinous ovarian cancerOvarian carcinoma
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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