rs13194984
This is a upstream gene variant variant in the BTN1A1 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
erythrocyte volume
Thompson A et al. “Assessing the impact of alcohol consumption on the genetic contribution to mean corpuscular volume.” Human Molecular Genetics 30(21):2040-2051 (2021)
Allele G
OR —
β 0.380
p 2.0e-134
N 362,595
Large GWAS
European
body height
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.02
p 3.0e-39
N 405,540
Large GWAS
European
health trait
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.01
p 6.0e-12
N 405,979
Large GWAS
European
substance-related disorder
Lai D et al. “Genome-wide meta-analyses of cross substance use disorders in diverse populations.” Molecular Psychiatry 31(3):1619-1633 (2026)
Allele T
OR 6.06
p 1.0e-9
N 1,699,295
Large GWAS
multi-ancestry
BMI-adjusted hip 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 T
OR 0.02
p 2.0e-8
N 219,872
Major Consortium StudyLarge GWAS
European
hemoglobin measurement
Timoteo VJ et al. “Common and ethnic-specific genetic determinants of hemoglobin concentration between Taiwanese Han Chinese and European Whites: findings from comparative two-stage genome-wide association studies.” The Journal of Nutritional Biochemistry 111:109126 (2023)
Allele T
OR —
β 0.059
p 2.0e-28
N 46,904
Large 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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