rs180349

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GWAS Catalog Trait Associations (11)

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

metabolic syndrome

Ho CY et al. “A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.” Nutrients 16(1) (2023)
Allele T
OR 0.21
p 5.0e-62
N 107,230
Large GWAS
East Asian

triglyceride measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele A
OR 0.24
p 2.0e-46
N 94,674
Large GWAS
multi-ancestry
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele A
OR 0.13
p 9.0e-14
N 5,662
Large GWAS
South Asian

beta-endorphin measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele A
OR 0.25
p 2.0e-18
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

high density lipoprotein cholesterol measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele A
OR 0.13
p 5.0e-18
N 94,674
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Association Between Single Gene Polymorphisms and Bone Biomarkers and Response to Calcium and Vitamin D Supplementation in Young Adults Undergoing Military Training
AssociationN=748Erin Gaffney-Stomberg et al.(2017)· Journal of Bone and Mineral Research

This randomized, double-blind, placebo-controlled trial examined associations between SNPs in calcium and vitamin D-related genes and bone biomarkers in 748 young military trainees. The study found that rs7041 (DBP gene) was associated with higher 25OHD (β=4.46, p=1.97E-10) and rs2228570 (VDR gene) was associated with lower P1NP (β=-4.83, p=0.04) and osteocalcin. A composite genetic risk score combining rs7041 and rs1544410 predicted differential responses to calcium and vitamin D supplementation during intensive military training.

Traits studied:1,25-dihydroxyvitamin D (1,25(OH)2D3)Bone mineral densityBone turnover markersBone-specific alkaline phosphatase (BAP)C-terminal telopeptide of type I collagen (CTX)Ionized calcium (iCa)Osteocalcin (OC)Parathyroid hormone (PTH)Procollagen type I N-terminal propeptide (P1NP)Response to calcium and vitamin D supplementationStress fracture riskTartrate-resistant acid phosphatase (TRAP)Vitamin D binding protein (DBP)Vitamin D status (25OHD)
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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