rs2305948

Chromosome : 4 , Position: 55113391

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: C

Alternative Alleles: T

Associated Genes

KDR

SRD5A3

TMEM165

CLOCK

KIT

PDCL2

Traits

Trait	Variant	Impact	PMID	Author (year)
Blood protein levels [KDR, 3651_50_5]	T		Science	Emilsson V (2018)

Summary

[PMID 19520980] VEGF Receptor-2 Variants Are Associated With Susceptibility to Stroke and Recurrence

[PMID 19875757] Clinical relevance of vascular endothelial growth factor (VEGFA) and VEGF receptor (VEGFR2) gene polymorphism on the treatment outcome following imatinib therapy

[PMID 22015057] Single nucleotide polymorphism associations with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-line sunitinib: a multicentre, observational, prospective study

[PMID 22129133] VEGFA and VEGFR2 genetic polymorphisms and survival in patients with diffuse large B cell lymphoma

[PMID 19953880] [Association of variants in the vascular endothelial growth factor receptor 2 gene and the risk of hemorrhagic stroke].

[PMID 20019880] Polymorphisms in the VEGFA and VEGFR-2 genes and neovascular age-related macular degeneration.

[PMID 20389299] Pazopanib-induced hyperbilirubinemia is associated with Gilbert’s syndrome UGT1A1 polymorphism.

[PMID 20401335] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

[PMID 21257617] Association of polymorphisms/haplotypes of the genes encoding vascular endothelial growth factor and its KDR receptor with recurrent pregnancy loss.

[PMID 21791631] Pharmacogenetic angiogenesis profiling for first-line Bevacizumab plus oxaliplatin-based chemotherapy in patients with metastatic colorectal cancer.

[PMID 22274884] Association between genetic variations of vascular endothelial growth factor receptor 2 and glioma in the Chinese Han population.

[PMID 23030506] SINGLE NUCLEOTIDE POLYMORPHISM AND SERUM LEVELS OF VEGFR2 ARE ASSOCIATED WITH AGE RELATED MACULAR DEGENERATION

[PMID 23111153] Implication of VEGFR2 in systemic lupus erythematosus: a combined genetic and structural biological approach

[PMID 23102494] Vascular endothelial growth factor family gene polymorphisms in preeclampsia in Sinhalese women in Sri-Lanka.

[PMID 24886133] Kinase insert domain receptor/vascular endothelial growth factor receptor 2 (KDR) genetic variation is associated with ovarian hyperstimulation syndrome

[PMID 25128838] Minor association of kinase insert domain-containing receptor gene polymorphism (rs2071559) with myocardial infarction in Caucasians with type 2 diabetes mellitus: Case-control cross-sectional study

[PMID 26081139] Genetic Variations of Kinase Inserts Domain Receptor (KDR) Gene Are Associated with the Risk of Astrocytomas

[PMID 26254278] Impact of VEGF, VEGFR, PDGFR, HIF and ERCC1 gene polymorphisms on thymic malignancies outcome after thymectomy

[PMID 25182707] The relationship of kinase insert domain receptor gene polymorphisms and clinical outcome in advanced hepatocellular carcinoma patients treated with sorafenib

More Information

''T'' allele showed a statistically significant increased association with the risk of glioma (0.012) [R].

''C'' allele is associated with both decreased controlled ovarian hyperstimulation (COH) response and ovarian hyperstimulation syndrome (OHSS) risk (unadjusted OR = 0.10; P = 0.031) [R].

''T'' allele might significantly elevate the the risk of astrocytomas. TT genotype was found to be significantly associated with susceptibility of astrocytomas only in the grade III-IV subgroup [R].

Advanced hepatocellular carcinoma patients with the TT genotype were significantly associated with a better response and longer time to progression (TTP) (5.8 vs 4.5 months, P=0.016) [R].

Population Alleles Frequency

ethhicity	frequency
African/African-American	0.2455
Latino/Admixed American	0.0684
Ashkenazi Jewish	0.0897
East Asian	0.1343
European	0.1
Other (population not assigned)	0.1075

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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