rs73376930

This is a upstream gene variant variant in the GREM1 gene.

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GWAS Catalog Trait Associations (2)

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

colorectal cancer

Law PJ et al. “Association analyses identify 31 new risk loci for colorectal cancer susceptibility.” Nature Communications 10(1):2154 (2019)

Allele G

OR 1.18

p 7.0e-35

N 92,967

Large GWAS

European

Laskar RS et al. “Genome-wide association studies and Mendelian randomization analyses provide insights into the causes of early-onset colorectal cancer.” Annals of Oncology : Official Journal of the European Society for Medical Oncology 35(6):523-536 (2024)

Allele G

OR 1.28

p 7.0e-25

N 72,005

Large GWAS

European

Schmit SL et al. “Novel Common Genetic Susceptibility Loci for Colorectal Cancer.” Journal of the National Cancer Institute 111(2):146-157 (2019)

Allele G

OR 1.14

p 4.0e-18

N 67,812

Large GWAS

multi-ancestry

Whiffin N et al. “Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.” Human Molecular Genetics 23(17):4729-37 (2014)

Allele G

OR 1.25

p 1.0e-11

N 13,443

Meta-analysisLarge GWAS

European

colon carcinoma

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 0.13

p 9.0e-15

N 627,511

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★☆☆☆

2 submitters1 publication

Familial colorectal cancer

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]

rs73376930

GWAS Catalog Trait Associations (2)

colorectal cancer

colon carcinoma

ClinVar annotation

About GREM1

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