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rs2305948

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs2305948(C;T)
Make rs2305948(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position55113391
GeneKDR
is asnp
is mentioned by
dbSNPrs2305948
ebirs2305948
HLIrs2305948
Exacrs2305948
Varsomers2305948
Maprs2305948
PheGenIrs2305948
hapmaprs2305948
1000 genomesrs2305948
hgdprs2305948
ensemblrs2305948
gopubmedrs2305948
geneviewrs2305948
scholarrs2305948
googlers2305948
pharmgkbrs2305948
gwascentralrs2305948
openSNPrs2305948
23andMers2305948
23andMe allrs2305948
SNP Nexus

SNPshotrs2305948
SNPdbers2305948
MSV3drs2305948
GWAS Ctlgrs2305948
GMAF0.1313
Max Magnitude0
? (C;C) (C;T) (T;T) 28

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


[PMID 20389299OA-icon.png] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.


[PMID 20401335OA-icon.png] 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 21791631OA-icon.png] 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


GET Evidence
KDR-V297I
aa_change Val297Ile
aa_change_short V297I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.145938
summary



[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 24886133OA-icon.png] 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


ClinVar
Risk rs2305948(T;T)
Alt rs2305948(T;T)
Reference rs2305948(C;C)
Significance Untested
Disease not specified
Variation info
Gene KDR
CLNDBN not specified
Reversed 0
HGVS NC_000004.11:g.55979558C>T
CLNSRC ClinVar
CLNACC RCV000121308.1,



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


[PMID 26254278OA-icon.png] 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


[PMID 27141535] Association of kinase insert domain-containing receptor (KDR) gene polymorphism/ haplotypes with recurrent spontaneous abortion and genetic structure.