rs2305948

This is a variant in the KDR gene that changes a valine to an isoleucine.

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GWAS Catalog Trait Associations (2)

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

vascular endothelial growth factor receptor 2 level

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.35
p 2.0e-48
N 10,708
Large GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.41
p 2.0e-23
N 3,301
Large GWAS
European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele T
OR 0.43
p 2.0e-32
N 5,361
Large GWAS
European
Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele T
OR 0.45
p 6.0e-21
N 3,200
Large GWAS
European
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ClinVar annotation

Benign
2 submitters1 publication

KDR-related disorder; not specified

View on ClinVar →
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Research that mentions this SNP (3)

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Association Between Single Nucleotide Polymorphisms in NFATC1 Signaling Pathway Genes and Susceptibility to Congenital Heart Disease in the Chinese Population
AssociationN=570Fengyu Wang et al.(2016)· Pediatric Cardiology

Case-control study of 277 Chinese CHD patients and 293 controls examining 29 SNPs in NFATC1 signaling pathway genes (NFATC1, VEGFR, VEGF, RANKL, FGFR1, BCL-6, ZNRD1). After Bonferroni correction, rs4531631 (RANKL) showed significant association with increased CHD risk (homozygous AA vs. GG: OR 2.38, p=0.001; recessive: OR 2.54, p=0.0003), as did rs13317 (FGFR1) (recessive CC vs. CT/TT: OR 2.06, p=0.00196). Authors suggest these variants may be potential biomarkers for genetic diagnosis and treatment of CHD.

Traits studied:Atrial Septal DefectCongenital Heart DiseaseTetralogy of FallotVentricular Septal Defect
PubMedDOIMetascience Observatory
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Evaluation of polymorphisms in angiogenesis-related genes as predictive and prognostic markers for sunitinib-treated metastatic renal cell carcinoma patients
AssociationN=121Juana Dornbusch et al.(2016)· Journal of Cancer Research and Clinical Oncology

This retrospective cohort study of 121 metastatic renal cell carcinoma (mRCC) patients treated with sunitinib evaluated 10 SNPs in angiogenesis-related genes (VEGFA, VEGFR1, VEGFR2, VEGFR3) as prognostic markers. Kaplan-Meier and Cox regression analyses identified rs9582036 in VEGFR1 (AA/AC genotypes vs CC wild-type) as significantly associated with improved overall survival (HR=0.241, p=0.018), while rs699947 in VEGFA showed associations with progression-free survival. No significant associations were found between SNPs and sunitinib-induced adverse effects (hand-foot syndrome, hypertension) after multiple testing correction.

Traits studied:hand-foot syndromehypertensionmetastatic renal cell carcinoma (mRCC)overall survivalprogression-free survivalsunitinib response
PubMedDOIMetascience Observatory
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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
PubMedDOIMetascience Observatory

About KDR

Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009]

View all KDR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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