rs10954732

This variant is located in the POR gene.

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GWAS Catalog Trait Associations (4)

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

triglycerides in medium HDL measurement

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 1.0e-18
N 450,015
Large GWAS
multi-ancestry

triglycerides in HDL measurement

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 7.0e-17
N 450,015
Large GWAS
multi-ancestry

triglycerides in small HDL measurement

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

substance-related disorder

Lai D et al. “Genome-wide meta-analyses of cross substance use disorders in diverse populations.” Molecular Psychiatry 31(3):1619-1633 (2026)
Allele A
OR 6.13
p 9.0e-10
N 1,699,295
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
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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