Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11549467
rs11549467
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.040 GeneticVariation BEFREE When stratified by study design, significantly elevated susceptibility to cancer was found among hospital-based studies.These findings suggested that the 1790G/A (rs11549467) genetic polymorphism may contribute to the susceptibility of cancers except gynecologic cancer, especially in homozygote comparison and recessive genetic model among Caucasian population, and this SNP was significantly associated with the lung cancer, pancreatic cancer and oral squamous cell carcinoma (OSCC). 24824937

2014

dbSNP: rs11549467
rs11549467
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 GeneticVariation BEFREE When stratified by study design, significantly elevated susceptibility to cancer was found among hospital-based studies.These findings suggested that the 1790G/A (rs11549467) genetic polymorphism may contribute to the susceptibility of cancers except gynecologic cancer, especially in homozygote comparison and recessive genetic model among Caucasian population, and this SNP was significantly associated with the lung cancer, pancreatic cancer and oral squamous cell carcinoma (OSCC). 24824937

2014

dbSNP: rs11549467
rs11549467
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.040 GeneticVariation BEFREE The current findings suggest that HIF1A P582S polymorphism correlates with urinary cancers risk in Caucasian population, while A588T polymorphism may increase the risk of urinary cancers in Asian population and prostate cancer. 23723982

2013

dbSNP: rs11549467
rs11549467
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 GeneticVariation BEFREE Compared with rs11549467 GG genotype, the variant genotypes GA+AA had a significantly increased PCa risk (adjusted odds ratio (OR)=1.70; 95% confidence interval (CI)=1.06-2.72), particularly among older patients (OR=2.01; 95%CI=1.05-3.86), smokers (OR=2.06; 95%CI=1.07-3.99), never drinkers (OR=2.16; 95%CI=1.20-3.86) and patients without a family history of cancer (OR=1.71; 95%CI=1.02-2.89). 23042446

2012

dbSNP: rs11549467
rs11549467
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.040 GeneticVariation BEFREE However, the combined variant genotypes of rs2057482 and rs11549467 were associated with increased PCa risk (OR=2.10; 95%CI=1.23-3.57 among subjects carrying three or more risk alleles). 23042446

2012

dbSNP: rs11549467
rs11549467
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.040 GeneticVariation BEFREE The roles of the polymorphic HIF-1α variants, C1772T (P582S) and G1790A (A588T), which are known to enhance transcriptional activity, were evaluated in lung cancers. 21435097

2011

dbSNP: rs11549467
rs11549467
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.040 GeneticVariation BEFREE In this study, we have investigated the relationship between seven HIF-1alphapolymorphisms [C > T substitution in intron 8 (rs10873142), T418I (rs41508050) in exon 10, P564P (rs41492849), L580L (rs34005929), P582S (rs11549465), A588T (rs11549467) in exon 12 and dinucleotide GT repeats in intron 13 (rs10645014)] among lung cancer patients in the Turkish population. 19546348

2009

dbSNP: rs11549467
rs11549467
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.040 GeneticVariation BEFREE In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of the HIF-1alpha gene have been identified in renal cell carcinoma, head and neck and esophageal squamous cell carcinomas as well as colorectal and prostate cancers. 18949419

2008

dbSNP: rs11549467
rs11549467
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.040 GeneticVariation BEFREE No significant differences were found between the frequencies of A588T mutation in prostate cancer patients and controls. 16998808

2007

dbSNP: rs763538721
rs763538721
CUI: C0025202
Disease: melanoma
melanoma
0.040 GeneticVariation BEFREE While under normoxic conditions the expression of glycolysis-related genes showed no correlation with origin or BRAF mutation status, GLUT1 expression was significantly elevated in metastatic and BRAF-V600E mutated melanoma cell lines under hypoxic conditions. 31791701

2020

dbSNP: rs763538721
rs763538721
CUI: C0025202
Disease: melanoma
melanoma
0.040 GeneticVariation BEFREE The present study evaluated the effect of hypoxia on three BRAF-V600E mutant melanoma cell lines, M14, A375 and 518A2, treated with vemurafenib. 26936534

2016

dbSNP: rs763538721
rs763538721
CUI: C0025202
Disease: melanoma
melanoma
0.040 GeneticVariation BEFREE ETV1 expression is a rare event in human melanoma and seems to be rather based on hyperactivation of MAPK signals, by BRAF (V600E) mutation, than on ETV1 gene amplification. 25073704

2014

dbSNP: rs763538721
rs763538721
CUI: C0025202
Disease: melanoma
melanoma
0.040 GeneticVariation BEFREE Our data show for the first time that BRAF(V600E) mutation increases HIF-1alpha expression and melanoma cell survival under hypoxic conditions and suggest that effects of the oncogenic V600E BRAF mutation may be partially mediated through the HIF-1alpha pathway. 17409425

2007

dbSNP: rs11549465
rs11549465
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.030 GeneticVariation BEFREE Recent work has shown that the <i>HIF-1A</i> Pro582Ser polymorphism is more resistant to hyperglycemia-mediated repression, thus protecting against the development of diabetic nephropathy. 31214621

2019

dbSNP: rs11549465
rs11549465
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 GeneticVariation BEFREE This meta-analysis was performed to assess the relationship between HIF-1α C1772T (rs11549465)/G1790A (rs11549467) gene polymorphism and RCC risk. 30539853

2018

dbSNP: rs11549465
rs11549465
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 GeneticVariation BEFREE This meta-analysis was performed to assess the relationship between HIF-1α C1772T (rs11549465)/G1790A (rs11549467) gene polymorphism and RCC risk. 30539853

2018

dbSNP: rs11549465
rs11549465
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 GeneticVariation BEFREE These results suggest that HIF1A+1772C/T (rs11549465) polymorphism may have effects on RCC recurrence/progression and survival. 28476527

2017

dbSNP: rs11549465
rs11549465
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 GeneticVariation BEFREE These results suggest that HIF1A+1772C/T (rs11549465) polymorphism may have effects on RCC recurrence/progression and survival. 28476527

2017

dbSNP: rs11549465
rs11549465
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.030 GeneticVariation BEFREE HIF-1α Pro582Ser single nucleotide polymorphisms may be correlated with type 2 DN, which needs further exploration. 26600509

2015

dbSNP: rs11549465
rs11549465
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.030 GeneticVariation BEFREE The current study demonstrates for the first time that HIF1A Pro582Ser polymorphism has an effect on DN, possibly by conferring a relative resistance to the repressive effect of glucose on HIF-1α. 22991450

2013

dbSNP: rs11549465
rs11549465
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 GeneticVariation BEFREE In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of the HIF-1alpha gene have been identified in renal cell carcinoma, head and neck and esophageal squamous cell carcinomas as well as colorectal and prostate cancers. 18949419

2008

dbSNP: rs11549465
rs11549465
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 GeneticVariation BEFREE In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of the HIF-1alpha gene have been identified in renal cell carcinoma, head and neck and esophageal squamous cell carcinomas as well as colorectal and prostate cancers. 18949419

2008

dbSNP: rs11549467
rs11549467
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 GeneticVariation BEFREE This meta-analysis was performed to assess the relationship between HIF-1α C1772T (rs11549465)/G1790A (rs11549467) gene polymorphism and RCC risk. 30539853

2018

dbSNP: rs11549467
rs11549467
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.030 GeneticVariation BEFREE We examined the effect of HIF1A rs11549467, HIF1A rs11549465, HIF1A rs2057482, HIF2A rs13419896 and vascular endothelial growth factor A (VEGFA) rs833061 on the risk of lung cancer using TaqMan real-time PCR assay. 27981753

2017

dbSNP: rs11549467
rs11549467
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.030 GeneticVariation BEFREE We examined the effect of HIF1A rs11549467, HIF1A rs11549465, HIF1A rs2057482, HIF2A rs13419896 and vascular endothelial growth factor A (VEGFA) rs833061 on the risk of lung cancer using TaqMan real-time PCR assay. 27981753

2017