rs699947
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.36x increased risk for thyroid cancer in men | |
| (A;C) | 1.36x increased risk for thyroid cancer in men | |
| (C;C) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 43768652 |
| Gene | VEGFA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs699947 |
| dbSNP (classic) | rs699947 |
| ClinGen | rs699947 |
| ebi | rs699947 |
| HLI | rs699947 |
| Exac | rs699947 |
| Gnomad | rs699947 |
| Varsome | rs699947 |
| LitVar | rs699947 |
| Map | rs699947 |
| PheGenI | rs699947 |
| Biobank | rs699947 |
| 1000 genomes | rs699947 |
| hgdp | rs699947 |
| ensembl | rs699947 |
| geneview | rs699947 |
| scholar | rs699947 |
| rs699947 | |
| pharmgkb | rs699947 |
| gwascentral | rs699947 |
| openSNP | rs699947 |
| 23andMe | rs699947 |
| SNPshot | rs699947 |
| SNPdbe | rs699947 |
| MSV3d | rs699947 |
| GWAS Ctlg | rs699947 |
| GMAF | 0.3439 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 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 19263526] 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 19429179] Association between promoter polymorphisms of vascular endothelial growth factor gene and sporadic Alzheimer's disease among Northern Chinese Han
[PMID 19308252
] Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation
[PMID 19594543] Effect of vascular endothelial growth factor polymorphisms on survival in advanced-stage non-small-cell lung cancer
[PMID 19875757] Clinical relevance of vascular endothelial growth factor (VEGFA) and VEGF receptor (VEGFR2) gene polymorphism on the treatment outcome following imatinib therapy
[PMID 19896188] Vascular Endothelial Growth Factor Gene Variation and the Response to Photodynamic Therapy in Age-Related Macular Degeneration
[PMID 20082870] A Single Nucleotide Polymorphism in the Vascular Endothelial Growth Factor Gene Is Associated with Recurrence of Hepatocellular Carcinoma after Transplantation
[PMID 20132989] Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population
[PMID 20489684] Vascular Endothelial Growth Factor Polymorphisms and Extent of Coronary Atherosclerosis in Chinese Population With Advanced Coronary Artery Disease
[PMID 20678803] Complement Factor H and High-Temperature Requirement A-1 Genotypes and Treatment Response of Age-related Macular Degeneration
[PMID 21859556] Association Study of Selected Genetic Polymorphisms and Occurrence of Venous Thromboembolism in Patients With Multiple Myeloma Who Were Treated With Thalidomide
[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 22258388] 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 21913742] Genetic predictors of response to photodynamictherapy
[PMID 22162628] Polymorphisms in the vascular endothelial growth factor gene and the risk of diabetic retinopathy in Chinese patients with type 2 diabetes
[PMID 22818823] Association of VEGF-A genetic polymorphisms with cancer risk and survival in advanced-stage oral squamous cell carcinoma patients
[PMID 16613616] Polymorphisms in the vascular endothelial growth factor gene and breast cancer in the Cancer Prevention Study II cohort.
[PMID 16645995] Vascular endothelial growth factor gene haplotypes in Kawasaki disease.
[PMID 16685110] Functional variation in VEGF is not associated with type 2 diabetes in a United Kingdom Caucasian population.
[PMID 17204151] VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis.
[PMID 17319747] Large-scale evaluation of candidate genes identifies associations between VEGF polymorphisms and bladder cancer risk.
[PMID 17513698] 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 17625508] VEGF C-634G polymorphism is associated with protection from isolated ventricular septal defect: case-control and TDT studies.
[PMID 17983459] Vascular endothelial growth factor (VEGF) gene (VEGFA) polymorphism can predict the prognosis in acute myeloid leukaemia patients.
[PMID 18378209] Vascular endothelial growth factor gene polymorphisms in age-related macular degeneration.
[PMID 18650217] Polymorphisms in the vascular endothelial growth factor gene and the risk of familial endometriosis.
[PMID 19041064] 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 19089753] Variation in the vascular endothelial growth factor gene, carotid intima-media thickness and the risk of acute myocardial infarction.
[PMID 19587357] A systematic meta-analysis of genetic association studies for diabetic retinopathy.
[PMID 19603096] An analysis of growth, differentiation and apoptosis genes with risk of renal cancer.
[PMID 19628492] Polymorphism of the manganese superoxide dismutase gene but not of vascular endothelial growth factor gene is a risk factor for diabetic retinopathy.
[PMID 19755511] The role of vascular endothelial growth factor SNPs as predictive and prognostic markers for major solid tumors.
[PMID 19842071] No association of VEGF polymorphims with Alzheimer's disease.
[PMID 20019880] Polymorphisms in the VEGFA and VEGFR-2 genes and neovascular age-related macular degeneration.
[PMID 20140301] VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study.
[PMID 20389299] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.
[PMID 20444917] Association of vascular endothelial growth factor polymorphisms with nonproliferative and proliferative diabetic retinopathy.
[PMID 20621071] Functional vascular endothelial growth factor gene polymorphisms and diabetes: effect on coronary collaterals in patients with significant coronary artery disease.
[PMID 20706635] Human genetics of diabetic retinopathy: current perspectives.
[PMID 21080079] Gene polymorphism of vascular endothelial growth factor -1154 G>A is associated with hypertensive nephropathy in a Hispanic population.
[PMID 21347390] Genetics of VEGF serum variation in human isolated populations of cilento: importance of VEGF polymorphisms.
[PMID 21362767] 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 21982816] Contribution of VEGF polymorphisms to variation in VEGF serum levels in a healthy population.
[PMID 22139971] Vascular endothelial growth factor (VEGF) gene polymorphisms may influence the efficacy of thalidomide in multiple myeloma.
[PMID 22429695] 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 22433249] Genetic polymorphisms located in TGFB1, AGTR1, and VEGFA genes are associated to chronic renal allograft dysfunction.
[PMID 22521084] Role of Vascular Endothelial Growth Factor Polymorphisms in the Treatment Success in Patients with Wet Age-related Macular Degeneration.
[PMID 23073296] VEGF Polymorphisms are not associated with an Increased Risk of Developing Renal Cell Carcinoma in Spanish population
[PMID 23211130] Polymorphisms in the vascular endothelial growth factor gene associated with recurrent spontaneous miscarriage
[PMID 22776467] 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 23511629] VEGF and VEGFR polymorphisms affect clinical outcome in advanced renal cell carcinoma patients receiving first-line sunitinib
[PMID 23842101] GENETIC FACTORS ASSOCIATED WITH RESPONSE TO INTRAVITREAL RANIBIZUMAB IN KOREAN PATIENTS WITH NEOVASCULAR AGE-RELATED MACULAR DEGENERATION
[PMID 23848209] Vascular endothelial growth factor A (VEGFA) polymorphisms in Chinese patients with rheumatoid arthritis
[PMID 23880405] Methionine sulfoxide reductase A rs10903323 G/A polymorphism is associated with increased risk of coronary artery disease in a Chinese population
[PMID 22850906] Genetic factors regulating inflammation and DNA methylation associated with prostate cancer
[PMID 24321896] Effect of Genetic Polymorphisms of Vascular Endothelial Growth Factor on Left Ventricular Hypertrophy in Patients With Systemic Hypertension
[PMID 24623964] Candidate gene association study for diabetic retinopathy in Chinese patients with type 2 diabetes
[PMID 22491902] The interaction between the maternal BMI and angiogenic gene polymorphisms associates with the risk of spontaneous preterm birth.
[PMID 22865486] Interaction among nitric oxide (NO)-related genes in migraine susceptibility.
[PMID 22925497] The relation of vascular endothelial growth factor (VEGF) gene polymorphisms on VEGF levels and the risk of vasoocclusive crisis in sickle cell disease.
[PMID 23007311] VEGF genetic polymorphisms affect the responsiveness to sildenafil in clinical and postoperative erectile dysfunction.
[PMID 23102494] Vascular endothelial growth factor family gene polymorphisms in preeclampsia in Sinhalese women in Sri-Lanka.
[PMID 23545315] Further evidence for the contribution of the vascular endothelial growth factor gene in coronary artery disease susceptibility.
[PMID 23553563] VEGFA SNPs and transcriptional factor binding sites associated with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau.
[PMID 24868559] The Associations between VEGF Gene Polymorphisms and Diabetic Retinopathy Susceptibility: A Meta-Analysis of 11 Case-Control Studies
[PMID 24935327] 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 24652518] VEGFA and VEGFR2 gene polymorphisms and response to anti-vascular endothelial growth factor therapy: comparison of age-related macular degeneration treatments trials (CATT)
[PMID 25148899] Investigating the association of vascular endothelial growth factor polymorphisms with breast cancer: a Moroccan case-control study
| ClinVar | |
|---|---|
| Risk | Rs699947(C;C) |
| Alt | Rs699947(C;C) |
| Reference | Rs699947(A;A) |
| Significance | Other |
| Disease | Atherosclerosis Alzheimer disease Amyotrophic lateral sclerosis in males |
| Variation | info |
| Gene | VEGFA |
| CLNDBN | Atherosclerosis, susceptibility to Alzheimer disease, susceptibility to Amyotrophic lateral sclerosis in males, susceptibility to |
| Reversed | 0 |
| HGVS | NC_000006.11:g.43736389A>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013008.2, RCV000013009.2, RCV000013010.2, |
[PMID 25894981] Genetic Variations of VEGF Gene Were Associated with Tetralogy of Fallot Risk in a Chinese Han Population
[PMID 26002049] Polymorphisms in VEGFA gene affect the antihypertensive responses to enalapril
[PMID 26254278] Impact of VEGF, VEGFR, PDGFR, HIF and ERCC1 gene polymorphisms on thymic malignancies outcome after thymectomy
[PMID 26264619] Vascular endothelial growth factor polymorphisms and a synchronized examination of plasma and tissue expression in epithelial ovarian cancers
[PMID 25596882] Genetic predictive biomarkers of anti-VEGF treatment response in patients with neovascular age-related macular degeneration
[PMID 26486233] Vascular endothelial growth factor (VEGF)-634G/C polymorphism was associated with severe pre-eclampsia and lower serum VEGF level
[PMID 24971577] Vascular endothelial growth factor A (VEGFA) gene polymorphisms have an impact on survival in a subgroup of indolent patients with chronic lymphocytic leukemia
[PMID 25714003] Association of VEGFA gene polymorphisms and VEGFA plasma levels with spontaneous preterm birth
[PMID 26535675] Association analysis of rs2275913G>A and rs763780T>C interleukin 17 polymorphisms in Chinese women with cervical cancer
[PMID 26587841] Candidate Gene Analysis of Mortality in Dialysis Patients
[PMID 26935927] Evaluation of polymorphisms in angiogenesis-related genes as predictive and prognostic markers for sunitinib-treated metastatic renal cell carcinoma patients.
[PMID 27116510] Effect of Risk Alleles in CFH, C3, and VEGFA on the Response to Intravitreal Bevacizumab in Tunisian Patients with Neovascular Age-related Macular Degeneration.
[PMID 28651127] Vascular endothelial growth factor single nucleotide polymorphisms and haplotypes in pre-eclampsia: A case-control study.
[PMID 27766947] Vascular endothelial growth factor (VEGFA) gene variation in polycystic ovary syndrome in a Tunisian women population.
[PMID 29699375] Potential Impact of Vascular Endothelial Growth Factor Gene Variation (-2578C>A) on Breast Cancer Susceptibility in Saudi Arabia: a Case-Control Study
[PMID 30310054] VEGFA GENE variation influences hallucinations and frontotemporal morphology in psychotic disorders: a B-SNIP study.
[PMID 30746337] Association of Growth Factors Genes with Miscarriage.
[PMID 31956063] Association between vascular endothelial growth factor gene polymorphisms and PCOS risk: A meta-analysis.
[PMID 32997825] VEGFR2 and VEGFA polymorphism are not associated with an inferior prognosis in Caucasian patients with aggressive B-cell lymphoma.
[PMID 33392836] Association between VEGF single nucleotide polymorphism and breast cancer in the Northern China Han population.
[PMID 33447413] The role of angiogenetic single-nucleotide polymorphisms in thymic malignancies and thymic benign lesions.
