rs2241057

This is a variant in the CYP26B1 gene that changes a leucine to an serine.

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GWAS Catalog Trait Associations (2)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele G
OR 0.01
p 2.0e-37
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

forced expiratory volume

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele A
OR 0.01
p 4.0e-8
N 373,397
Large GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters2 publications
View on ClinVar →
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Research that mentions this SNP (2)

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Association of CYP2R1 rs10766197 with MS risk and disease progression
ReviewConcetta Scazzone et al.(2018)· Journal of Neuroscience Research

This systematic review examines the role of cytochrome P450 (CYP) gene polymorphisms in the pathogenesis and development of ulcerative colitis. The authors discuss ten critical CYP isoforms (CYP1A1, CYP2D6, CYP2J2, CYP2R1, CYP3A4/3A5/3A7, CYP4F3, CYP24A1, CYP26B1, and CYP27B1) and their genetic variants associated with UC susceptibility and drug metabolism. Notable findings include CYP1A1*2A correlation with UC predisposition, CYP2D6*4 polymorphisms increasing UC risk (OR=1.56), CYP2J2 promoter polymorphism (G-50T) enrichment in UC patients, CYP24A1 variants (rs4809957, rs6068816, rs6091822, rs8124792) showing significant associations in East Asian populations, and CYP27B1 induction in UC lesions.

Traits studied:Crohn's diseaseInflammatory bowel diseaseUlcerative colitis
PubMedDOIMetascience Observatory
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Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies
AssociationN=1,369Marilyn L. Browne et al.(2012)· American Journal of Medical Genetics Part A

Population-based case-control study of 389 infants with congenital limb deficiencies and 980 controls examining 132 SNPs in 20 candidate genes involved in limb development, angiogenesis, and coagulation. Among non-Hispanic white infants, SNPs in FGF10 (rs10805683: OR=1.99, 95% CI=1.43-2.77; rs13170645: OR=2.37, 95% CI=1.48-3.78) showed significant associations with limb deficiencies after multiple testing correction, with supportive evidence for genes including EN1, WNT7A, CYP26B1, SHH, and TBX5.

Traits studied:Congenital limb deficienciesIntercalary limb deficienciesLongitudinal limb deficienciesTransverse limb deficiencies
PubMedDOIMetascience Observatory

About CYP26B1

This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

View all CYP26B1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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