rs17685

This is a downstream gene variant variant in the POR gene.

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GWAS Catalog Trait Associations (13)

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

coffee consumption measurement, tea consumption measurement

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 G
OR 0.04
p 4.0e-56
N 362,316
Large GWAS
European

tea consumption measurement

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 G
OR 0.02
p 7.0e-22
N 395,866
Large GWAS
European

cups of coffee per day measurement

Kennedy OJ et al. “Coffee Consumption and Kidney Function: A Mendelian Randomization Study.” American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation 75(5):753-761 (2020)
Allele A
OR —
β 0.059
p 8.0e-20
N 227,666
Large GWAS
European

bitter 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 A
OR 0.01
p 3.0e-16
N 85,852
Large GWAS
European

omega-6:omega-3 polyunsaturated fatty acid ratio

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 5.0e-15
N 450,015
Large GWAS
multi-ancestry

platelet count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR 0.02
p 9.0e-14
N 542,827
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 7.0e-10
N 408,112
Large GWAS
European

coffee consumption, cups of coffee per day measurement

Cornelis MC et al. “Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.” Molecular Psychiatry 20(5):647-656 (2015)
Allele A
OR 0.07
p 4.0e-11
N 91,462
Meta-analysisLarge GWAS
multi-ancestry

coffee consumption

Cornelis MC et al. “Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.” Molecular Psychiatry 20(5):647-656 (2015)
Allele A
OR 0.08
p 1.0e-9
N 48,528
Meta-analysisLarge GWAS
multi-ancestry

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.01
p 2.0e-9
N 1,122,049
Large GWAS
European

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.00
p 6.0e-9
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

View on ClinVar →
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Research that mentions this SNP (1)

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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

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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