Have questions? Visit https://www.reddit.com/r/SNPedia

rs699947

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome6
Position43768652
GeneVEGFA
is asnp
is mentioned by
dbSNPrs699947
ebirs699947
HLIrs699947
Exacrs699947
Varsomers699947
Maprs699947
PheGenIrs699947
hapmaprs699947
1000 genomesrs699947
hgdprs699947
ensemblrs699947
gopubmedrs699947
geneviewrs699947
scholarrs699947
googlers699947
pharmgkbrs699947
gwascentralrs699947
openSNPrs699947
23andMers699947
23andMe allrs699947
SNP Nexus

SNPshotrs699947
SNPdbers699947
MSV3drs699947
GWAS Ctlgrs699947
GMAF0.3439
Max Magnitude0
? (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 19308252OA-icon.png] 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


OMIM105400
Desc
Variant
Relatedalso
OMIM192240
Desc
Variant0002
Relatedalso


[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 22162628OA-icon.png] 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 16613616OA-icon.png] 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 17204151OA-icon.png] VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis.


[PMID 17319747OA-icon.png] 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 19587357OA-icon.png] A systematic meta-analysis of genetic association studies for diabetic retinopathy.


[PMID 19603096OA-icon.png] 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 19755511OA-icon.png] 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 20019880OA-icon.png] 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 20389299OA-icon.png] 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 20706635OA-icon.png] 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 21347390OA-icon.png] 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


GET Evidence
rs699947
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.727273
summary



[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 23511629OA-icon.png] 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 24623964OA-icon.png] 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 24868559OA-icon.png] 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 24652518OA-icon.png] 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 26254278OA-icon.png] 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 24971577OA-icon.png] 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 26587841OA-icon.png] 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.