rs2228570
A SNP in the VDR gene on chromosome 12. Its most notable genotype is A;A: common in clinvar
- Gene
- VDR
- Location
- Chr 1247,879,112 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- Not on consumer chips
- Minor allele frequency
- 35%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs2228570 on the minus strand: (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageA;A 13%
- European ancestry (Utah)A;A 20%
- Han Chinese (Beijing)A;A 18%
- Japanese (Tokyo)A;A 16%
- Yoruba (Nigeria)A;A 3%
- African ancestry (Southwest US)A;A 7%
- Chinese (Denver)A;A 26%
- Gujarati IndianA;A 11%
- Luhya (Kenya)A;A 2%
- Mexican ancestry (Los Angeles)A;A 26%
- Maasai (Kenya)A;A 3%
- TuscanA;A 16%
Related
Conditions, medicines and genes
Other VDR SNPs
- rs2107301A;A2.5x higher risk for prostate cancerImportant
- rs1544410T;TIncreased risk of low bone mineral density disordersWorth knowing
- rs731236A;GNo summary available.Typical
- rs739837G;Gcommon in clinvarTypical
- rs3847987C;Ccommon in clinvarTypical
- rs4516035C;Cif less milk in teenage females, less bone?Typical
- rs11574085T;Tcommon in complete genomicsTypical
- rs11574129A;Acommon in clinvarTypical
Notes
From SNPedia
Show notes, about 1,520 words
also known as the FokI polymorphism; be aware that findings often vary by race and ethnicity for this SNP Associated with periodontitis in a study of Chinese patients. rs2228570 aka rs10735810 allele (A) observed for breast cancer odds ratio (OR) of 1.26 Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis. Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes. Variants in the vitamin D receptor gene and asthma. Gene-environment interaction effects on the development of immune responses in the 1st year of life. Vitamin D receptor polymorphisms are associated with Graves' disease in German and Polish but not in Serbian patients. Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway. Polymorphisms in the vitamin D receptor and their associations with risk of schizophrenia and selected anthropometric measures. The short vitamin D receptor is associated with increased risk for generalized aggressive periodontitis. Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies. Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study. Association of the VDR translation start site polymorphism and fracture risk in older women. Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada. IL6 genotypes and colon and rectal cancer. Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes. Vitamin D receptor gene (VDR) associations with cancer. Genome-wide association with bone mass and geometry in the Framingham Heart Study. Lack of association of VDR gene polymorphisms with thyroid autoimmune disorders: familial and case/control studies. Leptin and leptin receptor genotypes and colon cancer: gene-gene and gene-lifestyle interactions. Novel insight in the association between salmonellosis or campylobacteriosis and chronic illness, and the role of host genetics in susceptibility to these diseases. Vitamin D receptor polymorphisms and risk of epithelial ovarian cancer. Vitamin D receptor gene polymorphisms and epithelial ovarian cancer risk. CDX2 VDR polymorphism and colorectal cancer. Family-based analysis of vitamin D receptor gene polymorphisms and type 1 diabetes in the population of South Croatia. Vitamin D receptor gene haplotypes and susceptibility to HIV-1 infection in injection drug users. Vitamin D receptor polymorphisms and renal cancer risk in Central and Eastern Europe. A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group. Lack of association of vitamin D receptor gene polymorphisms with susceptibility to type 1 diabetes mellitus in the Portuguese population. Vitamin D receptor gene polymorphisms and haplotypes and postmenopausal breast cancer risk. Vitamin D receptor variants and breast cancer risk in the Polish population. Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans. Association of vitamin D receptor gene variants, adiposity and colon cancer. Evidence for genetic regulation of vitamin D status in twins with multiple sclerosis. Modification of the inverse association between dietary vitamin D intake and colorectal cancer risk by a FokI variant supports a chemoprotective action of Vitamin D intake mediated through VDR binding. A novel SNP in a vitamin D response element of the CYP24A1 promoter reduces protein binding, transactivation, and gene expression. Vitamin D receptor gene polymorphisms have negligible effect on human height. Circulating 25-hydroxyvitamin D, VDR polymorphisms, and survival in advanced non-small-cell lung cancer. Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways. Vitamin D receptor polymorphisms and breast cancer risk: results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients. Fok-I vitamin D receptor gene polymorphism (rs10735810) and vitamin D metabolism in multiple sclerosis. Polymorphisms in the vitamin D receptor and risk of ovarian cancer in four studies. Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach. Prevalence of vitamin D receptor gene polymorphisms FokI and BsmI in Brazilian individuals with type 1 diabetes and their relation to beta-cell autoimmunity and to remaining beta-cell function. Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study. Past environmental sun exposure and risk of multiple sclerosis: a role for the Cdx-2 Vitamin D receptor variant in this interaction. Application of pharmacogenomics to vaccines. Vitamin D pathway gene variants and prostate cancer risk. Vitamin D receptor polymorphisms in differentiated thyroid carcinoma. A candidate gene association study of 77 polymorphisms in migraine. A systematic meta-analysis of genetic association studies for diabetic retinopathy. Vitamin D receptor gene polymorphisms, serum 25-hydroxyvitamin D levels, and melanoma: UK case-control comparisons and a meta-analysis of published VDR data. Association study between vitamin D receptor gene polymorphisms and asthma in the Chinese Han population: a case-control study. Vitamin D receptor variants and the malignant melanoma risk: a population-based study. TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population. Vitamin D receptor gene polymorphisms and susceptibility to type 1 diabetes in Crete, Greece. Association study on two vitamin D receptor gene polymorphisms and vitamin D metabolites in multiple sclerosis. [The inhibitory effect of calcitriol on the proliferation of hPDLCs populations of different vitamin D receptor Fok I genotypes]. A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy. Asthma and genes encoding components of the vitamin D pathway. Overview of the Rapid Response data. Association analyses of the vitamin D receptor gene in 1654 families with type I diabetes. Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families. The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome. Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis. A systematic review of the association between common single nucleotide polymorphisms and 25-hydroxyvitamin D concentrations. Calcium, vitamin D, VDR genotypes, and epigenetic and genetic changes in rectal tumors. The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer. Vitamin D receptor gene polymorphisms and hepatocellular carcinoma in alcoholic cirrhosis. BsmI, TaqI, ApaI, and FokI polymorphisms in the vitamin D receptor gene and periodontitis: a meta-analysis of 15 studies including 1338 cases and 1302 controls. Prostate cancer susceptibility Loci identified on chromosome 12 in African Americans. Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians. Vitamin D-related genetic variants, interactions with vitamin D exposure, and breast cancer risk among Caucasian women in Ontario. Coding region analysis of vitamin D receptor gene and its association with active calcium stone disease. Common variation in the vitamin D receptor gene and risk of inflammatory bowel disease in an Irish case-control study. Common genetic variants in the vitamin D pathway including genome-wide associated variants are not associated with breast cancer risk among Chinese women. Confirmation of an association between single nucleotide polymorphisms in the VDR gene with respiratory syncytial virus related disease in South African children. SLC11A1 and VDR gene variants and susceptibility to tuberculosis and disease progression in East India. Vitamin D receptor gene variants and clinical outcomes after androgen-deprivation therapy for prostate cancer. 25-hydroxyvitamin D, vitamin D receptor gene polymorphisms, and severity of Parkinson's disease. Plasma Levels of Vitamin D in HIV Patients Initiating Antiretroviral Therapy Do Not Predict Immune Restoration Disease Associated with Mycobacterium tuberculosis. Evaluation of ERalpha and VDR gene polymorphisms in relation to bone mineral density in Turkish postmenopausal women.
Source and license
Adapted from rs2228570 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.