{{Rsnum
|rsid=11549465
|Gene=HIF1A
|Chromosome=14
|position=61740839
|Orientation=plus
|GMAF=0.07346
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=HIF1A
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 85.8 | 13.3 | 0.9
| HCB | 92.7 | 6.6 | 0.7
| JPT | 92.0 | 8.0 | 0.0
| YRI | 93.2 | 6.8 | 0.0
| ASW | 96.5 | 3.5 | 0.0
| CHB | 92.7 | 6.6 | 0.7
| CHD | 87.2 | 12.8 | 0.0
| GIH | 81.2 | 16.8 | 2.0
| LWK | 93.6 | 5.5 | 0.9
| MEX | 84.5 | 13.8 | 1.7
| MKK | 76.9 | 21.8 | 1.3
| TSI | 66.7 | 28.4 | 4.9
| HapMapRevision=28
}}
[http://7thspace.com/headlines/317450/association_of_hypoxia_inducible_factor_1_alpha_gene_polymorphism_with_both_type_1_and_type_2_diabetes_in_a_caucasian_hungarian_sample.html news] (T;T) protective against [[type 1 diabetes]]

{{PMID Auto
|PMID=19691832
|Title=Association of hypoxia inducible factor-1 alpha gene polymorphism with both type 1 and type 2 diabetes in a Caucasian (Hungarian) sample
|OA=1
}}

{{PMID Auto
|PMID=20412701
|Title=Lack of association between hypoxia inducible factor-1 alpha gene polymorphisms and biopsy-proven [[giant cell arteritis]]
}}
{{PMID Auto
|PMID=20572162
|Title=Single nucleotide polymorphisms in the hypoxia-inducible factor-1 gene and colorectal cancer risk
}}

{{PMID Auto
|PMID=22825513
|Title=Association of thymidylate synthase and hypoxia inducible factor-1alpha DNA polymorphisms with pancreatic cancer
}}

{{PMID Auto
|PMID=18035072
|Title=Polymorphisms in hypoxia inducible factor 1 and the initial clinical presentation of coronary disease.
}}

{{PMID Auto
|PMID=18980686
|Title=Non-synonymous sequence variants within the oxygen-dependent degradation domain of the HIF1A gene are not associated with pre-eclampsia in the Finnish population.
|OA=1
}}

{{PMID Auto
|PMID=18998488
|Title=Two hypoxia sensor genes and their association with symptoms of acute mountain sickness in Sherpas.
}}

{{PMID Auto
|PMID=19306159
|Title=Association of hypoxia-inducible factor 1A (HIF1A) gene polymorphisms with systemic sclerosis in a French European Caucasian population.
}}

{{PMID Auto
|PMID=19546348
|Title=Genetic variations in the hypoxia-inducible factor-1alpha gene and lung cancer.
}}

{{PMID Auto
|PMID=19602906
|Title=Genetic polymorphisms of hypoxia-inducible factor-1 alpha and cardiovascular disease in hemodialysis patients.
}}

{{PMID Auto
|PMID=20005538
|Title=Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance?
}}

{{PMID Auto
|PMID=20059631
|Title=A multilocus candidate approach identifies ACE and HIF1A as susceptibility genes for cellulite.
}}

{{PMID Auto
|PMID=20299614
|Title=A common haplotype and the Pro582Ser polymorphism of the hypoxia-inducible factor-1alpha (HIF1A) gene in elite endurance athletes.
}}

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

{{PMID Auto
|PMID=20540786
|Title=The association of 18F-deoxyglucose (FDG) uptake of PET with polymorphisms in the glucose transporter gene (SLC2A1) and hypoxia-related genes (HIF1A, VEGFA, APEX1) in non-small cell lung cancer. SLC2A1 polymorphisms and FDG-PET in NSCLC patients.
|OA=1
}}

{{PMID Auto
|PMID=21778301
|Title=The polymorphisms in the VHL and HIF1A genes are associated with the prognosis but not the development of renal cell carcinoma.
}}

{{PMID Auto
|PMID=21791631
|Title=Pharmacogenetic angiogenesis profiling for first-line Bevacizumab plus oxaliplatin-based chemotherapy in patients with metastatic colorectal cancer.
|OA=1
}}

{{PMID Auto
|PMID=23042446
|Title=Genetic polymorphisms in HIF1A are associated with prostate cancer risk in a Chinese population
|OA=1
}}

{{GET Evidence
|gene=HIF1A
|aa_change=Pro582Ser
|aa_change_short=P582S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs11549465
|overall_frequency_n=938
|overall_frequency_d=10758
|overall_frequency=0.0871909
|n_genomes=8
|n_genomes_annotated=0
|n_haplomes=7
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.174
|nblosum100=3
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=23631762
|Title=Genotyping analysis and 18FDG uptake in breast cancer patients: a preliminary research
|OA=1
}}

{{PMID Auto
|PMID=24050543
|Title=A polymorphism in the 3' untranslated region of Hypoxia-Inducible Factor-1 alpha confers an increased risk of cervical cancer in a Chinese population
}}

{{PMID Auto
|PMID=24090974
|Title=The HIF1A functional genetic polymorphism at locus +1772 associates with progression to metastatic prostate cancer and refractoriness to hormonal castration
}}

{{PMID Auto
|PMID=24195510
|Title=A polymorphism in the 3' untranslated region of Hypoxia-Inducible Factor-1 alpha confers an increased risk of cervical cancer in a Chinese population
}}

{{PMID Auto
|PMID=24232601
|Title=Lack of association between the polymorphisms of hypoxia-inducible factor 1A (HIF1A) gene and SLE susceptibility in a Chinese population
}}

{{PMID Auto
|PMID=23583797
|Title=1790 G/A polymorphism, but not 1772 C/T polymorphism, is significantly associated with cancers: an update study.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}