Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2010963
rs2010963
VEGFA
CUI: C2676832
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1(finding)
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1(finding) 		G 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs833061
rs833061
VEGFA
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 GeneticVariation BEFREE <i>VEGFA</i> rs833061 polymorphism is significantly associated with the therapeutic efficiency of bevacizumab in CRC patients. 29285265

2017
dbSNP: rs752907384
rs752907384
VEGFA
CUI: C4749274
Disease: Chuvash erythrocytosis
Chuvash erythrocytosis 		0.010 GeneticVariation BEFREE Chuvash polycythemia is a hypoxia-sensing disorder characterized by homozygous mutation (598C>T) of von Hippel-Lindau gene (VHL), a negative regulator of hypoxia sensing. 14726398

2004
dbSNP: rs140461341
rs140461341
VEGFA
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE Tumor-associated macrophages in surgical specimens and sensitivity to CSF-1R inhibitors were used to determine macrophage function.<b>Results:</b> A <i>CSF1R</i> c.1085A>G genetic variant causing the change of histidine to arginine in the domain of receptor dimerization was identified as a high allele frequency in Eastern Asian population. 28724665

2017
dbSNP: rs1443465532
rs1443465532
VEGFA
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation BEFREE P125A-endostatin also localised into tumour tissue to a higher degree than the native protein, and displayed greater inhibition of growth of colon cancer in athymic mice. 15083196

2004
dbSNP: rs1443465532
rs1443465532
VEGFA
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 GeneticVariation BEFREE P125A-endostatin also localised into tumour tissue to a higher degree than the native protein, and displayed greater inhibition of growth of colon cancer in athymic mice. 15083196

2004
dbSNP: rs1443465532
rs1443465532
VEGFA
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 GeneticVariation BEFREE P125A-endostatin also localised into tumour tissue to a higher degree than the native protein, and displayed greater inhibition of growth of colon cancer in athymic mice. 15083196

2004
dbSNP: rs833061
rs833061
VEGFA
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 GeneticVariation BEFREE rs833061 and rs699947 on promoter gene of vascular endothelial growth factor (VEGF) and associated lung cancer susceptibility and survival: a meta-analysis. 25468805

2014
dbSNP: rs833061
rs833061
VEGFA
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.030 GeneticVariation BEFREE rs833061 and rs699947 on promoter gene of vascular endothelial growth factor (VEGF) and associated lung cancer susceptibility and survival: a meta-analysis. 25468805

2014
dbSNP: rs833061
rs833061
VEGFA
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.030 GeneticVariation BEFREE rs833061 and rs699947 on promoter gene of vascular endothelial growth factor (VEGF) and associated lung cancer susceptibility and survival: a meta-analysis. 25468805

2014
dbSNP: rs748984440
rs748984440
VEGFA
CUI: C0036211
Disease: Sarcoma 180
Sarcoma 180 		0.010 GeneticVariation BEFREE A fusion protein composed of human vascular endothelial growth factor (VEGF) and staphylococcal enterotoxin A (SEA) with a D227A mutation strongly repressed the growth of murine solid sarcoma 180 (S180) tumors (control versus VEGF-SEA treated with 15μg, mean tumor weight: 1.128g versus 0.252g, difference=0.876g). 23036194

2012
dbSNP: rs748984440
rs748984440
VEGFA
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE A fusion protein composed of human vascular endothelial growth factor (VEGF) and staphylococcal enterotoxin A (SEA) with a D227A mutation strongly repressed the growth of murine solid sarcoma 180 (S180) tumors (control versus VEGF-SEA treated with 15μg, mean tumor weight: 1.128g versus 0.252g, difference=0.876g). 23036194

2012
dbSNP: rs771561387
rs771561387
VEGFA
CUI: C0403447
Disease: Chronic Kidney Insufficiency
Chronic Kidney Insufficiency 		0.010 GeneticVariation BEFREE A genotypic but not allelic association was observed for two markers, VEGF (-460 T>C) and PON1 (Arg192Gly) among NI diabetic CRI subjects. 18413200

2009
dbSNP: rs771561387
rs771561387
VEGFA
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.010 GeneticVariation BEFREE A genotypic but not allelic association was observed for two markers, VEGF (-460 T>C) and PON1 (Arg192Gly) among NI diabetic CRI subjects. 18413200

2009
dbSNP: rs1222213359
rs1222213359
VEGFA
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE A meta-analysis was undertaken to critically reappraise whether any of the three common VEGF gene variations (-2578C/A, -1154G/A and -634G/C) increase the risk of ALS. 18413368

2009
dbSNP: rs752153816
rs752153816
VEGFA
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE A recent study found that haplotypes, determined by three SNPs (-2,578C/A, - 1,154 G/A, and - 634G/C) in the VEGF upstream promoter/leader sequence, were associated with risk of amyotrophic lateral sclerosis(ALS). 15763997

2005
dbSNP: rs3025039
rs3025039
VEGFA
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.040 GeneticVariation BEFREE A significant association between VEGFA rs3025039 C>T polymorphism and risk of CHD was also found. 28430629

2017
dbSNP: rs833069
rs833069
VEGFA
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.020 GeneticVariation BEFREE A significant association of DR was also observed with haplotype ACA, as defined by minor alleles of promoter SNPs rs699947, rs833061, and rs13207351 (OR=1.52, 95% CI: 1.03-2.24), and haplotype GAA, as defined by SNPs rs2010963, rs833069, and rs2146323 (OR=1.62, 95% CI: 1.08-2.41). 22162628

2011
dbSNP: rs2146323
rs2146323
VEGFA
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.040 GeneticVariation BEFREE A significant association of DR was also observed with haplotype ACA, as defined by minor alleles of promoter SNPs rs699947, rs833061, and rs13207351 (OR=1.52, 95% CI: 1.03-2.24), and haplotype GAA, as defined by SNPs rs2010963, rs833069, and rs2146323 (OR=1.62, 95% CI: 1.08-2.41). 22162628

2011
dbSNP: rs3025039
rs3025039
VEGFA
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.020 GeneticVariation BEFREE A significant association with KD susceptibility was observed with 5 SNPs in the ANGPT1 gene (most significantly associated SNP +265037 C>T; Pcombined=2.3×10(-7) ) and 2 SNPs in VEGFA (most significantly associated SNP rs3025039; Pcombined=2.5×10(-4) ). 21905000

2012
dbSNP: rs3025039
rs3025039
VEGFA
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.030 GeneticVariation BEFREE A significant relationship between VEGF+936C/T (rs3025</span>039) polymorphism and DR was found in a recessive model (OR = 3.19, 95% CI = 1.20-8.41, and P(z) = 0.01) in Asian and overall populations, while a significant association was also found between -460T/C (rs833061) polymorphism and DR risk under a recessive model (OR = 2.12, 95% CI = 1.12-4.01, and P(z) = 0.02).CONCLUSIONS. 24868559

2014
dbSNP: rs833061
rs833061
VEGFA
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.040 GeneticVariation BEFREE A significant relationship between VEGF+936C/T (rs3025039) polymorphism and DR was found in a recessive model (OR = 3.19, 95% CI = 1.20-8.41, and P(z) = 0.01) in Asian and overall populations, while a significant association was also found between -460T/C (rs833061) polymorphism and DR risk under a recessive model (OR = 2.12, 95% CI = 1.12-4.01, and P(z) = 0.02).CONCLUSIONS. 24868559

2014
dbSNP: rs1188254133
rs1188254133
VEGFA
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.010 GeneticVariation BEFREE A type 2C pVHL mutant (V188L), which is associated with a PHE only phenotype (and had been shown previously to retain the ability to promote HIF ubiquitylation), retained the ability to suppress CCND1expression suggesting that loss of pVHL-mediated suppression of cyclin D1 is not necessary for PHE development in VHL disease. 12097293

2002
dbSNP: rs1188254133
rs1188254133
VEGFA
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.010 GeneticVariation BEFREE A type 2C pVHL mutant (V188L), which is associated with a PHE only phenotype (and had been shown previously to retain the ability to promote HIF ubiquitylation), retained the ability to suppress CCND1expression suggesting that loss of pVHL-mediated suppression of cyclin D1 is not necessary for PHE development in VHL disease. 12097293

2002
dbSNP: rs1188254133
rs1188254133
VEGFA
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.010 GeneticVariation BEFREE A type 2C pVHL mutant (V188L), which is associated with a PHE only phenotype (and had been shown previously to retain the ability to promote HIF ubiquitylation), retained the ability to suppress CCND1expression suggesting that loss of pVHL-mediated suppression of cyclin D1 is not necessary for PHE development in VHL disease. 12097293

2002