rs35107139

This variant is located in the BMP4 gene.

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GWAS Catalog Trait Associations (6)

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

FEV/FVC ratio

Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele A
OR 0.03
p 3.0e-36
N 321,047
Large GWAS
European
Shrine N et al. “Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.” Nature Genetics 55(3):410-422 (2023)
Allele A
OR 11.78
p 5.0e-32
N 588,452
Large GWAS
multi-ancestry
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 6.0e-33
N 394,642
Large GWAS
European

colorectal cancer

Fernandez-Rozadilla C et al. “Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries.” Nature Genetics 55(1):89-99 (2023)
Allele C
OR 0.08
p 7.0e-31
N 254,791
Large GWAS
multi-ancestry
Tian J et al. “Developing an optimal stratification model for colorectal cancer screening and reducing racial disparities in multi-center population-based studies.” Genome Medicine 16(1):81 (2024)
Allele C
OR —
β 0.086
p 2.0e-23
N 839,703
Large GWAS
multi-ancestry
Law PJ et al. “Association analyses identify 31 new risk loci for colorectal cancer susceptibility.” Nature Communications 10(1):2154 (2019)
Allele C
OR 1.09
p 1.0e-13
N 92,967
Large GWAS
European

colorectal cancer, colorectal adenoma

Huyghe JR et al. “Discovery of common and rare genetic risk variants for colorectal cancer.” Nature Genetics 51(1):76-87 (2019)
Allele C
OR 1.09
p 2.0e-22
N 125,478
Large GWAS
multi-ancestry

polyp of colon

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.08
p 3.0e-16
N 525,237
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Microphthalmia with brain and digit anomalies;Orofacial cleft 11; not provided

View on ClinVar →

About BMP4

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 heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]

View all BMP4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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