rs1057868

This is a variant in the POR gene that changes a alanine to an valine.

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GWAS Catalog Trait Associations (26)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

coffee consumption measurement

Cole JB et al. “Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations.” Nature Communications 11(1):1467 (2020)
Allele C
OR 0.03
p 5.0e-36
N 448,204
Major Consortium StudyLarge GWAS
European
Said MA et al. “Associations of Observational and Genetically Determined Caffeine Intake With Coronary Artery Disease and Diabetes Mellitus.” Journal of the American Heart Association 9(24):e016808 (2020)
Allele C
OR 0.02
p 6.0e-22
N 373,522
Large GWAS
European
Zhong VW et al. “A genome-wide association study of bitter and sweet beverage consumption.” Human Molecular Genetics 28(14):2449-2457 (2019)
Allele C
OR 0.02
p 1.0e-33
N 335,909
Large GWAS
European

serum creatinine amount

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.02
p 1.0e-26
N 494,370
Large GWAS
multi-ancestry
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.01
p 1.0e-25
N 928,679
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 2.0e-26
N 394,642
Large GWAS
European

triglyceride measurement

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.02
p 2.0e-23
N 928,679
Large GWAS
multi-ancestry
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.01
p 3.0e-10
N 1,320,016
Large GWAS
European
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 2.0e-11
N 450,015
Large GWAS
multi-ancestry

bitter non-alcoholic beverage consumption measurement

Zhong VW et al. “A genome-wide association study of bitter and sweet beverage consumption.” Human Molecular Genetics 28(14):2449-2457 (2019)
Allele T
OR 0.02
p 4.0e-23
N 85,852
Large GWAS
European

cholesteryl esters to total lipids in medium HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 1.0e-19
N 450,015
Large GWAS
multi-ancestry

cholesterol to total lipids in medium HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 5.0e-17
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters to total lipids in large HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 1.0e-16
N 450,015
Large GWAS
multi-ancestry

triglycerides in very small VLDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 3.0e-16
N 450,015
Large GWAS
multi-ancestry

cholesterol to total lipids in small HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 1.0e-15
N 450,015
Large GWAS
multi-ancestry
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ClinVar annotation

Likely Benign★★★☆
8 submitters6 publications

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency; not specified

View on ClinVar →
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Research that mentions this SNP (2)

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Associations of cytochrome P450 oxidoreductase genetic polymorphisms with smoking cessation in a Chinese population
AssociationN=708Huijie Li et al.(2016)· Human Genetics

A case-control study of 708 Chinese Han participants (363 successful smoking quitters, 345 failed quitters) investigating associations between POR gene polymorphisms and smoking cessation. Four POR SNPs showed significant associations with smoking cessation susceptibility: rs3823884 (OR=1.316, p<0.05) and rs3898649 (OR=1.313, p<0.05) were associated with increased cessation success, while rs239953 (OR=0.661, p<0.05) and rs17685 (OR=0.724, p<0.05) showed negative effects.

Traits studied:Smoking cessation
PubMedDOIMetascience Observatory
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Association of single nucleotide polymorphisms in IL8 and IL13 with sunitinib-induced toxicity in patients with metastatic renal cell carcinoma
AssociationN=374Meta H. M. Diekstra et al.(2015)· European Journal of Clinical Pharmacology

This pharmacogenetic study of 374 patients with metastatic renal cell carcinoma examined SNP associations with sunitinib-induced toxicity. The IL8 rs1126647 T allele was associated with increased hypertension risk (OR=1.69, P=0.024), and the IL13 rs1800925 T allele was associated with increased leukopenia (OR=6.76, P=0.020) and grade >2 toxicity (OR=1.75, P=0.028). No significant associations were found with progression-free survival, overall survival, or clinical response.

Traits studied:Clinical responseGrade 2+ toxicityHand-foot syndromeHypertensionLeukopeniaMetastatic renal cell carcinomaMucosal inflammationOverall survivalProgression-free survivalSunitinib-induced toxicityThrombocytopenia
PubMedDOIMetascience Observatory

About POR

This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]

View all POR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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