rs2296189

This is a synonymous variant in the FLT1 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (2)

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

monocyte count

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)

Allele A

OR —

p 1.0e-9

N 234,690

Large GWAS

European

lymphocyte:monocyte ratio

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)

Allele A

OR —

p 7.0e-9

N 234,184

Large GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

Carcinoma of colon (CRC)

View on ClinVar →

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Research that mentions this SNP (1)

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VEGFA, FLT1, KDR and colorectal cancer: Assessment of disease risk, tumor molecular phenotype, and survival

AssociationN=4,224Martha L. Slattery et al.(2014)· Molecular Carcinogenesis

A case-control study of 1555 colon and 754 rectal cancer cases examined genetic variation in VEGFA, FLT1, and KDR genes. FLT1 was significantly associated with colon cancer risk (P_ARTP=0.045) and VEGFA with rectal cancer (P_ARTP=0.036). Multiple SNPs were associated with tumor molecular phenotypes (CIMP+, MSI+, TP53 mutations), and aspirin/NSAID use, smoking, and BMI modified these associations.

Traits studied:CIMP+ tumorsColon cancerColorectal cancerKRAS-mutated tumorsMSI+ tumorsRectal cancerTP53-mutated tumors

PubMed DOI Metascience Observatory

About FLT1

This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]