rs145101575

This variant is located in the BCKDHB gene.

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GWAS Catalog Trait Associations (2)

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

gut microbiome measurement, allergen exposure measurement

Stickley SA et al. “Gene-by-environment interactions modulate the infant gut microbiota in asthma and atopy.” The Journal of Allergy and Clinical Immunology 156(2):433-448 (2025)

Allele A

OR 0.05

p 4.0e-11

N 688

Small GWAS

multi-ancestry

body height

Chiou JS et al. “Your height affects your health: genetic determinants and health-related outcomes in Taiwan.” Bmc Medicine 20(1):250 (2022)

Allele A

OR 0.06

p 1.0e-9

N 67,452

Large GWAS

East Asian

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ClinVar annotation

Benign★★★☆

2 submitters

Maple syrup urine disease; not provided

View on ClinVar →

About BCKDHB

This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]