rs75782365

This is a intron variant variant in the BTN3A1 gene.

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GWAS Catalog Trait Associations (5)

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

forced expiratory volume, 25-hydroxyvitamin D3 measurement

Seo J et al. “Exploiting meta-analysis of genome-wide interaction with serum 25-hydroxyvitamin D to identify novel genetic loci associated with pulmonary function.” The American Journal of Clinical Nutrition 119(5):1227-1237 (2024)
Allele G
OR —
p 1.0e-18
N 115,312
Meta-analysisLarge GWAS
multi-ancestry

level of interleukin-15 in blood serum

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.06
p 1.0e-12
N 47,745
Large GWAS
European

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele G
OR 0.03
p 9.0e-10
N 186,825
Major Consortium StudyLarge GWAS
European

major depressive disorder

Cai N et al. “Minimal phenotyping yields genome-wide association signals of low specificity for major depression.” Nature Genetics 52(4):437-447 (2020)
Allele T
OR 1.05
p 1.0e-9
N 332,622
Large GWAS
European
Howard DM et al. “Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways.” Nature Communications 9(1):1470 (2018)
Allele T
OR 0.01
p 6.0e-9
N 322,580
Major Consortium StudyLarge GWAS
European

About BTN3A1

The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]

View all BTN3A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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