rs731236

minus

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

Make rs731236(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47844974

Gene

VDR

is a	snp
is	mentioned by
dbSNP	rs731236
dbSNP (classic)	rs731236
ClinGen	rs731236
ebi	rs731236
HLI	rs731236
Exac	rs731236
Gnomad	rs731236
Varsome	rs731236
LitVar	rs731236
Map	rs731236
PheGenI	rs731236
Biobank	rs731236
1000 genomes	rs731236
hgdp	rs731236
ensembl	rs731236
geneview	rs731236
scholar	rs731236
google	rs731236
pharmgkb	rs731236
gwascentral	rs731236
openSNP	rs731236
23andMe	rs731236
SNPshot	rs731236
SNPdbe	rs731236
MSV3d	rs731236
GWAS Ctlg	rs731236

GMAF

0.264

Max Magnitude

0

?

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

28

[PMID 19105801 ] rs731236 protection from breast cancer (OR=0.80, 95%CI=0.64-0.99; p= 0.047)

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

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

[PMID 19644412] Polymorphisms in the vitamin D receptor gene and risk of lung cancer

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

[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 21545713 ] Vitamin D receptor gene polymorphisms in multiple sclerosis patients in northwest Greece

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

[PMID 22729058] Vitamin D receptor polymorphisms in colorectal cancer in New Zealand: an association study

[PMID 22576141 ] No association of vitamin D metabolism-related polymorphisms and melanoma risk as well as melanoma prognosis: a case-control 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 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 17135034] Polymorphisms of the vitamin D receptor gene predict the onset of surgical menopause in Caucasian females.

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

[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 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 18205735] Association of vitamin D receptor gene polymorphisms in Chinese patients with generalized aggressive periodontitis.

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

[PMID 18279374] Association of vitamin D receptor gene 3'-variants with Hashimoto's thyroiditis in the Croatian population.

[PMID 18316854] Analysis of vitamin D receptor gene polymorphisms in patients with chronic periodontitis.

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

[PMID 18705810] Analysis of association of clinical aspects and vitamin D receptor gene polymorphism with dental implant loss.

[PMID 18849534] Association of genetic polymorphisms in vitamin D receptor gene and susceptibility to sporadic prostate cancer.

[PMID 18936436 ] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

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

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

[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 19693091] Vitamin D receptor gene polymorphisms and distinct clinical phenotypes of hepatitis B carriers in Taiwan.

[PMID 19753122 ] Analysis of SNPs and haplotypes in vitamin D pathway genes and renal cancer risk.

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

[PMID 19841454 ] Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture.

[PMID 19956101 ] Overview of the Rapid Response data.

[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 20006704] Lead and cognitive function in VDR genotypes in the third National Health and Nutrition Examination Survey.

[PMID 20009418] Matrix metalloproteinase-3 and vitamin d receptor genetic polymorphisms, and their interactions with occupational exposure in lumbar disc degeneration.

[PMID 20015871 ] Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia.

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

[PMID 20565774 ] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

[PMID 20585998] Variation in the vitamin D receptor gene is not associated with risk of colorectal cancer in the Czech Republic.

[PMID 20716226] Clinical and genetic predictors of response to narrowband ultraviolet B for the treatment of chronic plaque psoriasis.

[PMID 21076051] Vitamin D receptor genotypes, ultraviolet radiation exposure, and risk of non-Hodgkin lymphoma.

[PMID 21168462 ] Vitamin D receptor gene methylation is associated with ethnicity, tuberculosis, and TaqI polymorphism.

[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 21664963] Vitamin D receptor (VDR) gene SNPs influence VDR expression and modulate protection from multiple sclerosis in HLA-DRB1*15-positive individuals.

[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 21951018] Lack of association of vitamin D receptor gene 3'-haplotypes with psoriasis in Croatian patients.

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

[PMID 22151003] Combined effect of 25-OH vitamin D plasma levels and genetic vitamin D receptor (NR 1I1) variants on fibrosis progression rate in HCV patients.

[PMID 22170372 ] Vitamin D receptor and megalin gene polymorphisms and their associations with longitudinal cognitive change in US adults.

[PMID 22219324] Vitamin D receptor gene polymorphisms and HLA DRB1*04 cosegregation in Saudi type 2 diabetes patients.

[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 22681928 ] Vitamin D deficiency in girls from South Brazil: a cross-sectional study on prevalence and association with vitamin D receptor gene variants

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

[PMID 24224838] Polymorphisms in the Vitamin D Receptor Gene and Risk of Primary Biliary Cirrhosis: a meta-analysis

[PMID 22522591] Genetic variations in bile acid homeostasis are not overrepresented in alcoholic cirrhosis compared to patients with heavy alcohol abuse and absent liver disease.

[PMID 22551951] Allelic variations in the vitamin D receptor gene, insulin secretion and parents' heights are independently associated with height in obese children and adolescents.

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

[PMID 22947263] Association study between vitamin d receptor gene polymorphisms and patients with Parkinson disease in Chinese Han population.

[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 23103831] VDR TaqI is associated with obesity in the Greek population.

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

[PMID 23459936 ] Exploring the genetic basis of chronic periodontitis: a genome-wide association study.

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

[PMID 24894441 ] Significance of Vitamin D Receptor Gene Polymorphisms for Risk of Hepatocellular Carcinoma in Chronic Hepatitis C

[PMID 24927719] Interrelation between genotypes of the vitamin D receptor gene and serum sex hormone concentrations in the Polish elderly population: the PolSenior study

[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 25227839] Association between Circulating Vitamin D, the Taq1 Vitamin D Receptor Gene Polymorphism and Colorectal Cancer Risk among Jordanians

[PMID 25685788 ] Positive Association of Vitamin D Receptor Gene Variations with Multiple Sclerosis in South East Iranian Population

[PMID 25750310 ] Vitamin D Receptor Genetic Polymorphisms Are Associated with PSA Level, Gleason Score and Prostate Cancer Risk in African-American Men

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

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

[PMID 26093050] Vitamin D receptor gene polymorphisms in Alzheimer's disease patients

[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 26435642 ] Common VDR polymorphisms and idiopathic short stature in children from northern Greece

[PMID 26521212 ] Vitamin D receptor polymorphisms and survival in patients with cutaneous melanoma: A population-based 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 27149110 ] BsmI, ApaI and TaqI Polymorphisms in the Vitamin D Receptor Gene (VDR) and Association with Lumbar Spine Pathologies: An Italian Case-Control Study.

[PMID 27669215 ] Vitamin D-Related Gene Polymorphisms, Plasma 25-Hydroxy-Vitamin D, Cigarette Smoke and Non-Small Cell Lung Cancer (NSCLC) Risk.

[PMID 27736940 ] Vitamin D Receptor Gene Polymorphism and the Risk of Colorectal Cancer: A Nested Case-Control Study.

[PMID 27797792] Vitamin D receptor polymorphisms and survival in patients with cutaneous melanoma: A population-based study.

[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 28385183] Vitamin D receptor gene polymorphisms are associated with multiple sclerosis in Mexican adults.

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

ClinVar
Risk	rs731236(C;C)
Alt	rs731236(C;C)
Reference	Rs731236(T;T)
Significance	Probable-non-pathogenic
Disease	Vitamin D-Dependent Rickets
Variation	info
Gene	VDR
CLNDBN	Vitamin D-Dependent Rickets
Reversed	1
HGVS	NC_000012.11:g.48238757A>G
CLNSRC
CLNACC	RCV000361773.1,

[PMID 28868946] Vitamin D receptor gene polymorphisms and risk of polycystic ovary syndrome in South Indian women.

[PMID 29409002] PTPN22 and CTLA-4 Polymorphisms are Associated with Polyglandular Autoimmunity.

[PMID 29788141] A Single Nucleotide Polymorphism in the Vitamin D Receptor Gene Is Associated With Decreased Levels of the Protein and a Penetrating Pattern in Crohn's Disease.

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

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

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

[PMID 28990310 ] The interaction between vitamin D receptor polymorphisms and sun exposure around time of diagnosis influences melanoma survival.

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

[PMID 33099475 ] The Association Between the Genetic VDR SNP c.907+75C>T and Prostate Cancer Risk Is Modified by Tanning Potential.

[PMID 33219423] Serum vitamin D, vitamin D receptor and binding protein genes polymorphisms in restless legs syndrome.

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

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