rs72843784
This variant is located in the BTN1A1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
interleukin-2 receptor subunit alpha measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.08
p 9.0e-31
N 47,745
Large GWAS
European
protein measurement
Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)
Allele T
OR 0.44
p 6.0e-23
N 3,506
Large GWAS
European
upper aerodigestive tract neoplasm
Lesseur C et al. “Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers.” Plos Genetics 17(3):e1009254 (2021)
Allele T
OR 1.19
p 8.0e-10
N 75,848
Meta-analysisLarge GWAS
European
About BTN1A1
Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]
View all BTN1A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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