rs2228570

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs2228570(C;C)

Make rs2228570(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47879112

Gene

VDR

is a	snp
is	mentioned by
dbSNP	rs2228570
dbSNP (classic)	rs2228570
ClinGen	rs2228570
ebi	rs2228570
HLI	rs2228570
Exac	rs2228570
Gnomad	rs2228570
Varsome	rs2228570
LitVar	rs2228570
Map	rs2228570
PheGenI	rs2228570
Biobank	rs2228570
1000 genomes	rs2228570
hgdp	rs2228570
ensembl	rs2228570
geneview	rs2228570
scholar	rs2228570
google	rs2228570
pharmgkb	rs2228570
gwascentral	rs2228570
openSNP	rs2228570
23andMe	rs2228570
SNPshot	rs2228570
SNPdbe	rs2228570
MSV3d	rs2228570
GWAS Ctlg	rs2228570

Merged from

Rs10735810

GMAF

0.3466

Max Magnitude

0

also known as the FokI polymorphism; be aware that findings often vary by race and ethnicity for this SNP

?

(C;C) (C;T) (T;T)

28

Associated with periodontitis in a study of Chinese patients.[PMID 18205735]

[PMID 19105801 ] rs2228570 aka rs10735810 allele (A) observed for breast cancer odds ratio (OR) of 1.26

[PMID 19563249] No Association Between Vitamin D Receptor Polymorphisms and Coronary Artery Disease in a Chinese Population

[PMID 19584489] Vitamin D receptor (FokI, BsmI and TaqI) gene polymorphisms and type 2 diabetes mellitus : A North Indian study

[PMID 19706842] Vitamin D Receptor and Calcium Sensing Receptor Polymorphisms and the Risk of Colorectal Cancer in European Populations

[PMID 20473893 ] Vitamin D receptor rs2228570 polymorphism and invasive ovarian carcinoma risk: Pooled analysis in five studies within the Ovarian Cancer Association Consortium

[PMID 21816760] Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis

[PMID 22422157] Vitamin D receptor gene variability as a factor influencing bone mineral density in pediatric patients

[PMID 22729058] Vitamin D receptor polymorphisms in colorectal cancer in New Zealand: an association study[PMID 15113403 ] Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.

[PMID 15157284 ] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.

[PMID 15651992 ] Variants in the vitamin D receptor gene and asthma.

[PMID 15726497 ] Gene-environment interaction effects on the development of immune responses in the 1st year of life.

[PMID 16279845] Vitamin D receptor polymorphisms are associated with Graves' disease in German and Polish but not in Serbian patients.

[PMID 16600026 ] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.

[PMID 16634022] Polymorphisms in the vitamin D receptor and their associations with risk of schizophrenia and selected anthropometric measures.

[PMID 16899094] The short vitamin D receptor is associated with increased risk for generalized aggressive periodontitis.

[PMID 16905557] Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies.

[PMID 17244366 ] Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study.

[PMID 17280526] Association of the VDR translation start site polymorphism and fracture risk in older women.

[PMID 17366837 ] Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.

[PMID 17694420 ] IL6 genotypes and colon and rectal cancer.

[PMID 17703412] Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.

[PMID 17867381 ] Vitamin D receptor gene (VDR) associations with cancer.

[PMID 17903296 ] Genome-wide association with bone mass and geometry in the Framingham Heart Study.

[PMID 17943423] Lack of association of VDR gene polymorphisms with thyroid autoimmune disorders: familial and case/control studies.

[PMID 18059035 ] Leptin and leptin receptor genotypes and colon cancer: gene-gene and gene-lifestyle interactions.

[PMID 18062835 ] Novel insight in the association between salmonellosis or campylobacteriosis and chronic illness, and the role of host genetics in susceptibility to these diseases.

[PMID 18079052 ] Vitamin D receptor polymorphisms and risk of epithelial ovarian cancer.

[PMID 18086759] Vitamin D receptor gene polymorphisms and epithelial ovarian cancer risk.

[PMID 18086783 ] CDX2 VDR polymorphism and colorectal cancer.

[PMID 18161000] Family-based analysis of vitamin D receptor gene polymorphisms and type 1 diabetes in the population of South Croatia.

[PMID 18205531] Vitamin D receptor gene haplotypes and susceptibility to HIV-1 infection in injection drug users.

[PMID 18246496 ] Vitamin D receptor polymorphisms and renal cancer risk in Central and Eastern Europe.

[PMID 18285546 ] A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group.

[PMID 18361940] Lack of association of vitamin D receptor gene polymorphisms with susceptibility to type 1 diabetes mellitus in the Portuguese population.

[PMID 18419802 ] Vitamin D receptor gene polymorphisms and haplotypes and postmenopausal breast cancer risk.

[PMID 18587672] Vitamin D receptor variants and breast cancer risk in the Polish population.

[PMID 18593774 ] Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans.

[PMID 18628249 ] Association of vitamin D receptor gene variants, adiposity and colon cancer.

[PMID 18689381 ] Evidence for genetic regulation of vitamin D status in twins with multiple sclerosis.

[PMID 18709640] 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.

[PMID 18824104 ] A novel SNP in a vitamin D response element of the CYP24A1 promoter reduces protein binding, transactivation, and gene expression.

[PMID 18828731] Vitamin D receptor gene polymorphisms have negligible effect on human height.

[PMID 18936471 ] Circulating 25-hydroxyvitamin D, VDR polymorphisms, and survival in advanced non-small-cell lung cancer.

[PMID 18992263 ] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.

[PMID 19124512] Vitamin D receptor polymorphisms and breast cancer risk: results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium.

[PMID 19131662 ] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

[PMID 19178954] Fok-I vitamin D receptor gene polymorphism (rs10735810) and vitamin D metabolism in multiple sclerosis.

[PMID 19223536 ] Polymorphisms in the vitamin D receptor and risk of ovarian cancer in four studies.

[PMID 19255064 ] Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.

[PMID 19263529 ] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

[PMID 19286443] 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.

[PMID 19330901 ] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

[PMID 19383647] Past environmental sun exposure and risk of multiple sclerosis: a role for the Cdx-2 Vitamin D receptor variant in this interaction.

[PMID 19450131 ] Application of pharmacogenomics to vaccines.

[PMID 19454612 ] Vitamin D pathway gene variants and prostate cancer risk.

[PMID 19499989] Vitamin D receptor polymorphisms in differentiated thyroid carcinoma.

[PMID 19559392 ] A candidate gene association study of 77 polymorphisms in migraine.

[PMID 19587357 ] A systematic meta-analysis of genetic association studies for diabetic retinopathy.

[PMID 19615888 ] Vitamin D receptor gene polymorphisms, serum 25-hydroxyvitamin D levels, and melanoma: UK case-control comparisons and a meta-analysis of published VDR data.

[PMID 19622139 ] Association study between vitamin D receptor gene polymorphisms and asthma in the Chinese Han population: a case-control study.

[PMID 19679055] Vitamin D receptor variants and the malignant melanoma risk: a population-based study.

[PMID 19682379 ] TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population.

[PMID 19734102] Vitamin D receptor gene polymorphisms and susceptibility to type 1 diabetes in Crete, Greece.

[PMID 19758194] Association study on two vitamin D receptor gene polymorphisms and vitamin D metabolites in multiple sclerosis.

[PMID 19760020] [The inhibitory effect of calcitriol on the proliferation of hPDLCs populations of different vitamin D receptor Fok I genotypes].

[PMID 19783860] A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy.

[PMID 19852851 ] Asthma and genes encoding components of the vitamin D pathway.

[PMID 19956101 ] Overview of the Rapid Response data.

[PMID 19956103 ] Association analyses of the vitamin D receptor gene in 1654 families with type I diabetes.

[PMID 19956106 ] Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.

[PMID 19956109 ] The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

[PMID 20196868 ] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.

[PMID 20363324] A systematic review of the association between common single nucleotide polymorphisms and 25-hydroxyvitamin D concentrations.

[PMID 20432164 ] Calcium, vitamin D, VDR genotypes, and epigenetic and genetic changes in rectal tumors.

[PMID 20437058 ] The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer.

[PMID 20572305 ] Vitamin D receptor gene polymorphisms and hepatocellular carcinoma in alcoholic cirrhosis.

[PMID 21198767] 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.

[PMID 21358824 ] Prostate cancer susceptibility Loci identified on chromosome 12 in African Americans.

[PMID 21440908] Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians.

[PMID 21693626] Vitamin D-related genetic variants, interactions with vitamin D exposure, and breast cancer risk among Caucasian women in Ontario.

[PMID 21814771] Coding region analysis of vitamin D receptor gene and its association with active calcium stone disease.

[PMID 21818054] Common variation in the vitamin D receptor gene and risk of inflammatory bowel disease in an Irish case-control study.

[PMID 21828234 ] Common genetic variants in the vitamin D pathway including genome-wide associated variants are not associated with breast cancer risk among Chinese women.

[PMID 21837802] Confirmation of an association between single nucleotide polymorphisms in the VDR gene with respiratory syncytial virus related disease in South African children.

[PMID 22008758] SLC11A1 and VDR gene variants and susceptibility to tuberculosis and disease progression in East India.

[PMID 22193519] Vitamin D receptor gene variants and clinical outcomes after androgen-deprivation therapy for prostate cancer.

[PMID 22213340] 25-hydroxyvitamin D, vitamin D receptor gene polymorphisms, and severity of Parkinson's disease.

[PMID 22280097] Plasma Levels of Vitamin D in HIV Patients Initiating Antiretroviral Therapy Do Not Predict Immune Restoration Disease Associated with Mycobacterium tuberculosis.

[PMID 22311020] Evaluation of ERalpha and VDR gene polymorphisms in relation to bone mineral density in Turkish postmenopausal women.

[PMID 23034014] Association of vitamin D receptor gene polymorphisms with severe atopic dermatitis in adults

[PMID 23393347 ] Sunlight, Polymorphisms of Vitamin D-related Genes and Risk of Breast Cancer

[PMID 23298194 ] Epistatic study reveals two genetic interactions in blood pressure regulation

[PMID 23639864] Otosclerosis and vitamin D receptor gene polymorphism

[PMID 23840333 ] Vitamin D3 Receptor ( VDR ) Gene rs2228570 (Fok1) and rs731236 (Taq1) Variants Are Not Associated with the Risk for Multiple Sclerosis: Results of a New Study and a Meta-Analysis

[PMID 23841669] VDR gene polymorphisms, interaction with smoking, and risk of periodontal disease in Japanese women: the Kyushu Okinawa Maternal and Child Health Study

[PMID 23979900] Association analysis of vitamin D receptor gene polymorphisms and bone mineral density in postmenopausal Mexican-Mestizo women

[PMID 24007655] Genetic variants in Vitamin D pathway in Egyptian asthmatic children: a pilot study

[PMID 24073221 ] Influence of Vitamin D-Related Gene Polymorphisms (CYP27B and VDR) on the Response to Interferon/Ribavirin Therapy in Chronic Hepatitis C

[PMID 24381141] Vitamin D receptor gene polymorphisms and esophageal cancer risk in a Chinese population: a negative study [PMID 22740028 ] An exploratory analysis of common genetic variants in the vitamin D pathway including genome-wide associated variants in relation to glioma risk and outcome.

[PMID 22805623] Potential role of OPG/RANKL system and FokI genotypes in pathogenesis and clinical manifestations in multiple sclerosis.

[PMID 22859341] Vitamin D receptor polymorphism rs2228570 (Fok1) is associated with rheumatoid arthritis in North American natives.

[PMID 22917542] Association of vitamin D receptor gene polymorphisms with clinical outcomes of dengue virus infection.

[PMID 22960018 ] Investigation of the vitamin D receptor gene (VDR) and its interaction with protein tyrosine phosphatase, non-receptor type 2 gene (PTPN2) on risk of islet autoimmunity and type 1 diabetes: the Diabetes Autoimmunity Study in the Young (DAISY).

[PMID 23065277 ] Vitamin D receptor gene BsmI, FokI, ApaI and TaqI polymorphisms and the risk of systemic lupus erythematosus.

[PMID 23065592] Polymorphisms in the vitamin D receptor gene and risk of autoimmune thyroid diseases: a meta-analysis.

[PMID 23070913] Association of vitamin D binding protein polymorphism with long-term kidney allograft survival in Hispanic kidney transplant recipients.

[PMID 23173643] Vitamin D receptor gene polymorphism and cardiovascular risk variables in elderly Polish subjects.

[PMID 23300018] Vitamin D receptor genotype rs731236 (Taq1) and breast cancer prognosis.

[PMID 23320576 ] Vitamin D receptor gene BsmI and FokI polymorphisms in relation to ovarian cancer risk in the Polish population.

[PMID 23416105] Vitamin D status and gene transcription in immune cells.

[PMID 23492909] Pharmacogenetics of CYP1A2 activity and inducibility in smokers and exsmokers.

[PMID 24853028] Association of vitamin D receptor gene polymorphism with the risk of systemic lupus erythematosus

[PMID 24996287] Association of vitamin D receptor FokI and ApaI polymorphisms with lung cancer risk in Tunisian population

[PMID 25000366] Association of vitamin D receptor gene polymorphism with the urine calcium level in nephrolithiasis patients

[PMID 23923033 ] The association between plasma 25-hydroxyvitamin D and subgroups in age-related macular degeneration: a cross-sectional study

[PMID 25671813 ] Gender Differences in the VDR-FokI Polymorphism and Conventional Non-Genetic Risk Factors in Association with Lumbar Spine Pathologies in an Italian Case-Control Study

[PMID 25764158 ] A Polymorphism at the Translation Start Site of the Vitamin D Receptor Gene Is Associated with the Response to Anti-Osteoporotic Therapy in Postmenopausal Women from Southern Italy

[PMID 25854779] Vitamin D Receptor Gene Polymorphism and the Risk of Multiple Sclerosis in South Eastern of Iran

[PMID 25890006] Association of Taq I, Fok I and Apa I polymorphisms in Vitamin D Receptor (VDR) gene with Leprosy

[PMID 25899017] Effects of vitamin D receptor gene polymorphism and clinical characteristics on risk of diabetic retinopathy in Han Chinese type 2 diabetes patients

[PMID 26040031] [Association of allelic polymorphisms of genes matrix Gla-protein system with ischemic atherothrombotic stroke]

[PMID 26131229 ] Association of vitamin d receptor-a gene polymorphisms with coronary heart disease in Han Chinese

[PMID 26303648] Association of vdr, cyp27b1, cyp24a1 and mthfr gene polymorphisms with oral lichen planus risk

[PMID 26453801] Vitamin D Receptor Genetic Polymorphism Is Significantly Associated with Risk of Type 2 Diabetes Mellitus in Chinese Han Population

[PMID 26517870 ] Association between the BsmI Polymorphism in the Vitamin D Receptor Gene and Breast Cancer Risk: Results from a Pakistani Case-Control Study

[PMID 26593863] Genetic susceptibility to autoimmune thyroid diseases in a Chinese Han population: Role of vitamin D receptor gene polymorphisms [PMID 26632733 ] Association Between Vitamin D Receptor rs731236 (Taq1) Polymorphism and Risk for Restless Legs Syndrome in the Spanish Caucasian Population. [PMID 27570856 ] Genetic influence on circulating vitamin D among Saudi Arabians.

[PMID 27683185] Association Between Single Gene Polymorphisms and Bone Biomarkers and Response to Calcium and Vitamin D Supplementation in Young Adults Undergoing Military Training.

[PMID 28216333] Vitamin D receptor gene polymorphisms, smoking, and risk of sporadic Parkinson's disease in Japan.

[PMID 28285414] A population association study of vitamin D receptor gene polymorphisms and haplotypes with the risk of systemic lupus erythematosus in a Chinese population.

[PMID 28384983 ] Association Study of Vitamin D Receptor (VDR) - Related Genetic Polymorphisms and their Haplotypes with Chronic Periodontitis in Colombian Population.

ClinVar
Risk	rs2228570(A;A) rs2228570(C;C) rs2228570(G;G)
Alt	rs2228570(A;A) rs2228570(C;C) rs2228570(G;G)
Reference	Rs2228570(T;T)
Significance	Non-pathogenic
Disease	Vitamin D-Dependent Rickets
Variation	info
Gene	VDR
CLNDBN	Vitamin D-Dependent Rickets
Reversed	1
HGVS	NC_000012.11:g.48272895A>G
CLNSRC
CLNACC	RCV000280730.1,

[PMID 29581796 ] Polymorphisms in Vitamin D Receptor Genes in Association with Childhood Autism Spectrum Disorder.

[PMID 29926136] Association between vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in a Chinese Bai population.

[PMID 30119682 ] Vitamin D receptor polymorphism rs2228570 is significantly associated with risk of dyslipidemia and serum LDL levels in Chinese Han population.

[PMID 30233789 ] VDR and TNFSF11 polymorphisms are associated with osteoporosis in Thai patients.

[PMID 30309792] Association of SNP-SNP Interactions Between RANKL, OPG, CHI3L1, and VDR Genes With Breast Cancer Risk in Egyptian Women.

[PMID 30334169] Hedgehog signaling pathway and vitamin D receptor gene variants as potential risk factors in odontogenic cystic lesions.

[PMID 30624097] Association of VDR and OPG gene polymorphism with osteoporosis risk in Chinese postmenopausal women.

[PMID 30963970] Association of Vitamin D Gene Polymorphisms and Bone Mineral Density in Healthy young Saudi Females.

[PMID 30968071] Association of Vitamin D Receptor Gene Polymorphisms with Chronic Periodontitis in a Population in Western Romania.

[PMID 31565578 ] Genetic associations of vitamin D receptor polymorphisms with advanced liver fibrosis and response to pegylated interferon-based therapy in chronic hepatitis C.

[PMID 31640710 ] DBP rs16846876 and rs12512631 polymorphisms are associated with progression to AIDS naïve HIV-infected patients: a retrospective study.

[PMID 31654764] Vitamin D Receptor Gene Polymorphism and susceptibility to Asthma: meta-analysis based on 17 case-control studies.

[PMID 31719947 ] Vitamin D plasma concentration and vitamin D receptor genetic variants confer risk of asthma: A comparison study of Taiwanese and Mongolian populations.

[PMID 31959263] Vitamin D related genes and cardiometabolic markers in healthy children: a Mendelian randomization study.

[PMID 32236287] Association between vitamin D receptor gene polymorphisms (Fok I, Cdx-2) and bone mineral density in Slovak postmenopausal women.

[PMID 32952510 ] TaqI and ApaI Variants of Vitamin D Receptor Gene Increase the Risk of Colorectal Cancer in a Saudi Population.

[PMID 33226370 ] A systematic review and network meta-analysis of single nucleotide polymorphisms associated with pancreatic cancer risk.

[PMID 33453076] High-Dose Vitamin D During Pregnancy and Pathway Gene Polymorphisms in Prevention of Offspring Persistent Wheeze.

[PMID 33469344 ] Association of Vitamin D Receptor Gene Polymorphisms with Metabolic Syndrome in Chinese Children.

[PMID 33554789] [A Case-Control Study on Receptor Gene Polymorphism and Risk Suffering from Adult Acute Leukemia in Fujian Area].

[PMID 33590380] Vitamin D Receptor (VDR) Gene Polymorphisms and Risk of Coronary Artery Disease (CAD): Systematic Review and Meta-analysis.