rs111588693

This variant is located in the BMP6 gene.

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GWAS Catalog Trait Associations (3)

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

vital capacity

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.02

p 2.0e-24

N 394,642

Large GWAS

European

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 4.0e-9

N 95,952

Meta-analysisLarge GWAS

multi-ancestry

body height

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.06

p 5.0e-60

N 607,510

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Benign

1 submitter

BMP6-related disorder

View on ClinVar →

About BMP6

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates a wide range of biological processes including iron homeostasis, fat and bone development, and ovulation. Differential expression of this gene may be associated with progression of breast and prostate cancer. Mutations in this gene may be associated with iron overload in human patients. [provided by RefSeq, Jul 2016]