rs2762934

This is a 3 prime utr variant variant in the CYP24A1 gene.

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GWAS Catalog Trait Associations (3)

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

calcium measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.03
p 4.0e-19
N 325,659
Major Consortium StudyLarge GWAS
multi-ancestry

cystatin C measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 9.0e-11
N 355,752
Major Consortium StudyLarge GWAS
multi-ancestry

vitamin D level

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 1.0e-10
N 339,705
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★☆☆☆
2 submitters1 publication

Hypercalcemia, infantile, 1 (HCINF1)

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

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Low 25(OH) vitamin D3 levels are associated with adverse outcome in newly diagnosed, intensively treated adult acute myeloid leukemia
AssociationN=97Hun Ju Lee et al.(2014)· Cancer

This study evaluated 25(OH) vitamin D3 levels and associated SNPs in 97 newly-diagnosed, intensively-treated AML patients. Low vitamin D levels were associated with worse relapse-free survival (RFS) and overall survival (OS). The VDR SNP rs10783219 (T allele) was significantly associated with lower complete remission rates (p=0.0442), shorter RFS (p=0.0058), and shorter OS (p=0.0011); this SNP remained significant in multivariate analysis. Two additional SNPs in the GC gene (rs4588 and rs2762934) showed associations with vitamin D levels but did not retain significance after multiple test correction.

Traits studied:Acute myeloid leukemiaVitamin D levels
PubMedDOIMetascience Observatory
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A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol in combination with cisplatin and docetaxel in advanced non-small-cell lung cancer
AssociationN=34Ramnath N. et al.(2013)· Cancer Chemotherapy and Pharmacology

A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol combined with cisplatin and docetaxel in 34 advanced non-small-cell lung cancer patients. The recommended phase II dose was 60 mcg/m² every 21 days. CYP24A1 SNP rs2762939 and rs3787554 were analyzed for associations with overall survival and progression-free survival using univariate Cox regression models, though associations did not reach statistical significance (rs2762939: p=0.29 OS, p=0.70 PFS; rs3787554: p=0.13 OS, p=0.30 PFS). Functional SNPs in CYP24A1 may inform future studies for individualizing calcitriol therapy.

Traits studied:Drug toxicityNon-small-cell lung cancerOverall survivalProgression-free survivalResponse to calcitriol therapy
PubMedDOIMetascience Observatory

About CYP24A1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all CYP24A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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