rs2293581

This variant is located in the GREM1 gene.

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GWAS Catalog Trait Associations (3)

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

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 A
OR 1.15
p 9.0e-40
N 125,478
Large GWAS
multi-ancestry

colorectal cancer

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 A
OR 0.11
p 1.0e-29
N 839,703
Large GWAS
multi-ancestry
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 A
OR 0.12
p 1.0e-14
N 626,755
Major Consortium StudyLarge GWAS
multi-ancestry

Red cell distribution width

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 0.02
p 2.0e-12
N 380,796
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About GREM1

This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to relay the sonic hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

View all GREM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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