{{Rsnum
|rsid=699947
|Gene=VEGFA
|Chromosome=6
|position=43768652
|Orientation=plus
|GMAF=0.3439
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=VEGFA
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 20.5 | 54.5 | 25.0
| HCB | 5.3 | 38.3 | 56.4
| JPT | 17.3 | 39.1 | 43.6
| YRI | 2.1 | 23.9 | 73.9
| ASW | 0.0 | 33.3 | 66.7
| CHB | 5.3 | 38.3 | 56.4
| CHD | 12.1 | 35.5 | 52.3
| GIH | 13.9 | 42.6 | 43.6
| LWK | 3.7 | 25.0 | 71.3
| MEX | 12.1 | 55.2 | 32.8
| MKK | 7.3 | 29.1 | 63.6
| TSI | 34.7 | 42.6 | 22.8
| HapMapRevision=28
}}[[rs699947]] (-2578C>A) is a SNP within close proximity of [[VEGFA]] (Vascular endothelial growth factor A).

The A allele of [[rs699947]] increased a risk for [[thyroid cancer]] (adjusted OR=1.36, 95% C.I=1.02~1.81, P=0.039) and regional lymph node metastasis only in men. {{PMID|17951537}}

{{PMID Auto
|PMID=19263526
|Title=Single nucleotide polymorphisms of vascular endothelial growth factor gene intron 2 are markers for early progression of diabetic retinopathy in Japanese with type 1 diabetes
}}

{{PMID Auto
|PMID=19429179
|Title=Association between promoter polymorphisms of vascular endothelial growth factor gene and sporadic Alzheimer's disease among Northern Chinese Han
}}
{{PMID Auto
|PMID=19308252
|Title=Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation
|OA=1
}}
{{PMID Auto
|PMID=19594543
|Title=Effect of vascular endothelial growth factor polymorphisms on survival in advanced-stage non-small-cell lung cancer
}}
{{PMID Auto
|PMID=19875757
|Title=Clinical relevance of vascular endothelial growth factor (VEGFA) and VEGF receptor (VEGFR2) gene polymorphism on the treatment outcome following imatinib therapy
}}
{{PMID Auto
|PMID=19896188
|Title=Vascular Endothelial Growth Factor Gene Variation and the Response to Photodynamic Therapy in Age-Related Macular Degeneration
}}

{{PharmGKB
|RSID=rs699947
|Name_s=VEGFA:(-2578)C>A; VEGF-A -2578 C/A
|Gene_s=VEGFA
|Feature=
|Evidence=PubMed ID:20125120
|Annotation=Risk or phenotype-associated allele: CA. Phenotype: Response was observed in 21% of the patients with the -2578 CA genotype compared with 59% of the patients with CC+AA. This genotype was also associated with poor progression free survival (PFS). Study size: 72. Study population/ethnicity: Patients with metastatic colorectal neoplasms; Denmark. Significance metric(s): p = 0.002 (response); HR = 1.74, CI 1.04-2.92, p = 0.02 (PFS) Type of association: PD; CO
|Drugs=capecitabine; oxaliplatin
|Drug Classes=
|Diseases=Colorectal Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA165282108
}}

{{PMID Auto
|PMID=20082870
|Title=A Single Nucleotide Polymorphism in the Vascular Endothelial Growth Factor Gene Is Associated with Recurrence of Hepatocellular Carcinoma after Transplantation
}}

{{PMID Auto
|PMID=20132989
|Title=Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population
}}

{{PMID Auto
|PMID=20489684
|Title=Vascular Endothelial Growth Factor Polymorphisms and Extent of Coronary Atherosclerosis in Chinese Population With Advanced Coronary Artery Disease
}}
{{PMID Auto
|PMID=20678803
|Title=Complement Factor H and High-Temperature Requirement A-1 Genotypes and Treatment Response of Age-related Macular Degeneration
}}

{{PharmGKB
|RSID=rs699947
|Name_s=VEGFA:C-2578A
|Gene_s=VEGFA
|Feature=
|Evidence=PubMed ID:17891484
|Annotation=The A allele of this SNP was associated with increased breast cancer risk in Caucasian women.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA164891510
}}

{{omim
|id=105400
|rsnum=699947
}}

{{omim
|id=192240
|rsnum=699947
|variant=0002
}}

{{PMID Auto
|PMID=21859556
|Title=Association Study of Selected Genetic Polymorphisms and Occurrence of Venous Thromboembolism in Patients With Multiple Myeloma Who Were Treated With Thalidomide
}}

{{PMID Auto
|PMID=22015057
|Title=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 Auto
|PMID=22129133
|Title=VEGFA and VEGFR2 genetic polymorphisms and survival in patients with diffuse large B cell lymphoma
}}

{{PMID Auto
|PMID=22258388
|Title=Association of NOS2 and potential effect of VEGF, IL6, CCL2 and IL1RN polymorphisms and haplotypes on susceptibility to GCA--a simultaneous study of 130 potentially functional SNPs in 14 candidate genes
}}

{{PMID Auto
|PMID=21913742
|Title=Genetic predictors of response to photodynamictherapy
}}

{{PMID Auto
|PMID=22162628
|Title=Polymorphisms in the vascular endothelial growth factor gene and the risk of diabetic retinopathy in Chinese patients with type 2 diabetes
|OA=1
}}

{{PMID Auto
|PMID=22818823
|Title=Association of VEGF-A genetic polymorphisms with cancer risk and survival in advanced-stage oral squamous cell carcinoma patients
}}

{{PMID Auto
|PMID=16613616
|Title=Polymorphisms in the vascular endothelial growth factor gene and breast cancer in the Cancer Prevention Study II cohort.
|OA=1
}}

{{PMID Auto
|PMID=16645995
|Title=Vascular endothelial growth factor gene haplotypes in Kawasaki disease.
}}

{{PMID Auto
|PMID=16685110
|Title=Functional variation in VEGF is not associated with type 2 diabetes in a United Kingdom Caucasian population.
}}

{{PMID Auto
|PMID=17204151
|Title=VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis.
|OA=1
}}

{{PMID Auto
|PMID=17319747
|Title=Large-scale evaluation of candidate genes identifies associations between VEGF polymorphisms and bladder cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=17513698
|Title=Multiple variants in vascular endothelial growth factor (VEGFA) are risk factors for time to severe retinopathy in type 1 diabetes: the DCCT/EDIC genetics study.
}}

{{PMID Auto
|PMID=17625508
|Title=VEGF C-634G polymorphism is associated with protection from isolated ventricular septal defect: case-control and TDT studies.
}}

{{PMID Auto
|PMID=17983459
|Title=Vascular endothelial growth factor (VEGF) gene (VEGFA) polymorphism can predict the prognosis in acute myeloid leukaemia patients.
}}

{{PMID Auto
|PMID=18378209
|Title=Vascular endothelial growth factor gene polymorphisms in age-related macular degeneration.
}}

{{PMID Auto
|PMID=18650217
|Title=Polymorphisms in the vascular endothelial growth factor gene and the risk of familial endometriosis.
}}

{{PMID Auto
|PMID=19041064
|Title=Vascular endothelial growth factor gene polymorphisms may predict the risk of acute graft-versus-host disease following allogeneic transplantation: preventive effect of vascular endothelial growth factor gene on acute graft-versus-host disease.
}}

{{PMID Auto
|PMID=19089753
|Title=Variation in the vascular endothelial growth factor gene, carotid intima-media thickness and the risk of acute myocardial infarction.
}}

{{PMID Auto
|PMID=19587357
|Title=A systematic meta-analysis of genetic association studies for diabetic retinopathy.
|OA=1
}}

{{PMID Auto
|PMID=19603096
|Title=An analysis of growth, differentiation and apoptosis genes with risk of renal cancer.
|OA=1
}}

{{PMID Auto
|PMID=19628492
|Title=Polymorphism of the manganese superoxide dismutase gene but not of vascular endothelial growth factor gene is a risk factor for diabetic retinopathy.
}}

{{PMID Auto
|PMID=19755511
|Title=The role of vascular endothelial growth factor SNPs as predictive and prognostic markers for major solid tumors.
|OA=1
}}

{{PMID Auto
|PMID=19842071
|Title=No association of VEGF polymorphims with Alzheimer's disease.
}}

{{PMID Auto
|PMID=20019880
|Title=Polymorphisms in the VEGFA and VEGFR-2 genes and neovascular age-related macular degeneration.
|OA=1
}}

{{PMID Auto
|PMID=20140301
|Title=VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study.
}}

{{PMID Auto
|PMID=20389299
|Title=Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.
|OA=1
}}

{{PMID Auto
|PMID=20444917
|Title=Association of vascular endothelial growth factor polymorphisms with nonproliferative and proliferative diabetic retinopathy.
}}

{{PMID Auto
|PMID=20621071
|Title=Functional vascular endothelial growth factor gene polymorphisms and diabetes: effect on coronary collaterals in patients with significant coronary artery disease.
}}

{{PMID Auto
|PMID=20706635
|Title=Human genetics of diabetic retinopathy: current perspectives.
|OA=1
}}

{{PMID Auto
|PMID=21080079
|Title=Gene polymorphism of vascular endothelial growth factor -1154 G>A is associated with hypertensive nephropathy in a Hispanic population.
}}

{{PMID Auto
|PMID=21347390
|Title=Genetics of VEGF serum variation in human isolated populations of cilento: importance of VEGF polymorphisms.
|OA=1
}}

{{PMID Auto
|PMID=21362767
|Title=Interaction between smoking and polymorphism in the promoter region of the VEGFA gene is associated with ischemic heart disease and myocardial infarction in rheumatoid arthritis.
}}

{{PMID Auto
|PMID=21982816
|Title=Contribution of VEGF polymorphisms to variation in VEGF serum levels in a healthy population.
}}

{{PMID Auto
|PMID=22139971
|Title=Vascular endothelial growth factor (VEGF) gene polymorphisms may influence the efficacy of thalidomide in multiple myeloma.
}}

{{PMID Auto
|PMID=22429695
|Title=Polymorphism in the vascular endothelial growth factor A (VEGFA) gene is associated with serum VEGF-A level and disease activity in rheumatoid arthritis: differential effect of cigarette smoking.
}}

{{PMID Auto
|PMID=22433249
|Title=Genetic polymorphisms located in TGFB1, AGTR1, and VEGFA genes are associated to chronic renal allograft dysfunction.
}}

{{PMID Auto
|PMID=22521084
|Title=Role of Vascular Endothelial Growth Factor Polymorphisms in the Treatment Success in Patients with Wet Age-related Macular Degeneration.
}}

{{PMID Auto
|PMID=23073296
|Title=VEGF Polymorphisms are not associated with an Increased Risk of Developing Renal Cell Carcinoma in Spanish population
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs699947
|overall_frequency_n=64
|overall_frequency_d=88
|overall_frequency=0.727273
|n_genomes=30
|n_genomes_annotated=0
|n_haplomes=53
|n_articles=2
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23211130
|Title=Polymorphisms in the vascular endothelial growth factor gene associated with recurrent spontaneous miscarriage
}}

{{PMID Auto
|PMID=22776467
|Title=Age at onset of rheumatoid arthritis: association with polymorphisms in the vascular endothelial growth factor A(VEGFA) gene and an intergenic locus between matrix metalloproteinase (MMP) 1 and 3 genes
}}

{{PMID Auto
|PMID=23511629
|Title=VEGF and VEGFR polymorphisms affect clinical outcome in advanced renal cell carcinoma patients receiving first-line sunitinib
|OA=1
}}

{{PMID Auto
|PMID=23842101
|Title=GENETIC FACTORS ASSOCIATED WITH RESPONSE TO INTRAVITREAL RANIBIZUMAB IN KOREAN PATIENTS WITH NEOVASCULAR AGE-RELATED MACULAR DEGENERATION
}}

{{PMID Auto
|PMID=23848209
|Title=Vascular endothelial growth factor A (VEGFA) polymorphisms in Chinese patients with rheumatoid arthritis
}}

{{PMID Auto
|PMID=23880405
|Title=Methionine sulfoxide reductase A rs10903323 G/A polymorphism is associated with increased risk of coronary artery disease in a Chinese population
}}

{{PMID Auto
|PMID=22850906
|Title=Genetic factors regulating inflammation and DNA methylation associated with prostate cancer
}}

{{PMID Auto
|PMID=24321896
|Title=Effect of Genetic Polymorphisms of Vascular Endothelial Growth Factor on Left Ventricular Hypertrophy in Patients With Systemic Hypertension
}}

{{PMID Auto
|PMID=24623964
|Title=Candidate gene association study for diabetic retinopathy in Chinese patients with type 2 diabetes
|OA=1
}}

{{PMID Auto
|PMID=22491902
|Title=The interaction between the maternal BMI and angiogenic gene polymorphisms associates with the risk of spontaneous preterm birth.
}}

{{PMID Auto
|PMID=22865486
|Title=Interaction among nitric oxide (NO)-related genes in migraine susceptibility.
}}

{{PMID Auto
|PMID=22925497
|Title=The relation of vascular endothelial growth factor (VEGF) gene polymorphisms on VEGF levels and the risk of vasoocclusive crisis in sickle cell disease.
}}

{{PMID Auto
|PMID=23007311
|Title=VEGF genetic polymorphisms affect the responsiveness to sildenafil in clinical and postoperative erectile dysfunction.
}}

{{PMID Auto
|PMID=23102494
|Title=Vascular endothelial growth factor family gene polymorphisms in preeclampsia in Sinhalese women in Sri-Lanka.
}}

{{PMID Auto
|PMID=23545315
|Title=Further evidence for the contribution of the vascular endothelial growth factor gene in coronary artery disease susceptibility.
}}

{{PMID Auto
|PMID=23553563
|Title=VEGFA SNPs and transcriptional factor binding sites associated with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau.
}}

{{PMID Auto
|PMID=24868559
|Title=The Associations between VEGF Gene Polymorphisms and Diabetic Retinopathy Susceptibility: A Meta-Analysis of 11 Case-Control Studies
}}

{{PMID Auto
|PMID=24935327
|Title=Haplotype Analysis on Chromosome 6p of Tumor Necrosis Factor Alpha, Vascular Endothelial Growth Factor A, and Interleukin-17F Alleles Associated With Corneal Transplant Rejection
}}

{{PMID Auto
|PMID=24652518
|Title=VEGFA and VEGFR2 gene polymorphisms and response to anti-vascular endothelial growth factor therapy: comparison of age-related macular degeneration treatments trials (CATT)
}}

{{PMID Auto
|PMID=25148899
|Title=Investigating the association of vascular endothelial growth factor polymorphisms with breast cancer: a Moroccan case-control study
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}