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dbSNP Short Genetic Variations

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.


Current Build 153

Released July 9, 2019

Homo sapiens
chr12:47908762 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Variation Type
SNV Single Nucleotide Variation
T=0.40463 (50809/125568, TOPMED)
C=0.4858 (38232/78698, PAGE_STUDY)
T=0.3619 (11344/31344, GnomAD) (+ 6 more)
T=0.457 (2288/5008, 1000G)
T=0.131 (589/4480, Estonian)
T=0.205 (790/3854, ALSPAC)
T=0.201 (745/3708, TWINSUK)
T=0.22 (132/600, NorthernSweden)
T=0.41 (89/216, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
94 citations
Genomic View
See rs on genome

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 12 NC_000012.12:g.47908762C>T
GRCh37.p13 chr 12 NC_000012.11:g.48302545C>T
VDR RefSeqGene NG_008731.1:g.1270G>A

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 C=0.59537 T=0.40463
The PAGE Study Global Study-wide 78698 C=0.4858 T=0.5142
The PAGE Study AfricanAmerican Sub 32512 C=0.2172 T=0.7828
The PAGE Study Mexican Sub 10810 C=0.8440 T=0.1560
The PAGE Study Asian Sub 8318 C=0.588 T=0.412
The PAGE Study PuertoRican Sub 7918 C=0.622 T=0.378
The PAGE Study NativeHawaiian Sub 4534 C=0.540 T=0.460
The PAGE Study Cuban Sub 4230 C=0.680 T=0.320
The PAGE Study Dominican Sub 3828 C=0.507 T=0.493
The PAGE Study CentralAmerican Sub 2450 C=0.751 T=0.249
The PAGE Study SouthAmerican Sub 1982 C=0.817 T=0.183
The PAGE Study NativeAmerican Sub 1260 C=0.729 T=0.271
The PAGE Study SouthAsian Sub 856 C=0.68 T=0.32
gnomAD - Genomes Global Study-wide 31344 C=0.6381 T=0.3619
gnomAD - Genomes European Sub 18870 C=0.8264 T=0.1736
gnomAD - Genomes African Sub 8696 C=0.205 T=0.795
gnomAD - Genomes East Asian Sub 1554 C=0.570 T=0.430
gnomAD - Genomes Other Sub 1086 C=0.745 T=0.255
gnomAD - Genomes American Sub 848 C=0.83 T=0.17
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.77 T=0.23
1000Genomes Global Study-wide 5008 C=0.543 T=0.457
1000Genomes African Sub 1322 C=0.105 T=0.895
1000Genomes East Asian Sub 1008 C=0.604 T=0.396
1000Genomes Europe Sub 1006 C=0.772 T=0.228
1000Genomes South Asian Sub 978 C=0.64 T=0.36
1000Genomes American Sub 694 C=0.82 T=0.18
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.869 T=0.131
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.795 T=0.205
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.799 T=0.201
Northern Sweden ACPOP Study-wide 600 C=0.78 T=0.22
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.59 T=0.41

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= T Note
GRCh38.p12 chr 12 NC_000012.12:g.47908762= NC_000012.12:g.47908762C>T
GRCh37.p13 chr 12 NC_000012.11:g.48302545= NC_000012.11:g.48302545C>T
VDR RefSeqGene NG_008731.1:g.1270= NG_008731.1:g.1270G>A

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

74 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 WRAYLAB ss16340094 Feb 28, 2004 (120)
2 JDRF_WT_DIL ss20420955 Apr 05, 2004 (121)
3 SSAHASNP ss20872921 Apr 05, 2004 (121)
4 ERASMUSMC-GLIM ss32465643 Dec 02, 2004 (126)
5 ABI ss38892478 Mar 11, 2006 (126)
6 AFFY ss66146303 Dec 02, 2006 (127)
7 AFFY ss76169624 Dec 07, 2007 (129)
8 HGSV ss82257204 Dec 15, 2007 (130)
9 HGSV ss82585597 Dec 15, 2007 (130)
10 KRIBB_YJKIM ss82889329 Dec 14, 2007 (130)
11 BCMHGSC_JDW ss89138150 Mar 24, 2008 (129)
12 KRIBB_YJKIM ss104805086 Feb 06, 2009 (130)
13 SNP500CANCER ss105437910 Feb 06, 2009 (130)
14 1000GENOMES ss111908706 Jan 25, 2009 (130)
15 1000GENOMES ss113509539 Jan 25, 2009 (130)
16 ILLUMINA-UK ss118787280 Dec 01, 2009 (131)
17 ENSEMBL ss132126623 Dec 01, 2009 (131)
18 ENSEMBL ss133153654 Dec 01, 2009 (131)
19 COMPLETE_GENOMICS ss168259625 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss169774023 Jul 04, 2010 (132)
21 AFFY ss172699314 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss175118096 Jul 04, 2010 (132)
23 BUSHMAN ss198141245 Jul 04, 2010 (132)
24 1000GENOMES ss225742098 Jul 14, 2010 (132)
25 1000GENOMES ss235927043 Jul 15, 2010 (132)
26 1000GENOMES ss242488161 Jul 15, 2010 (132)
27 ILLUMINA ss244272774 Jul 04, 2010 (132)
28 BL ss255097190 May 09, 2011 (134)
29 GMI ss281387855 May 04, 2012 (137)
30 GMI ss286557639 Apr 25, 2013 (138)
31 PJP ss291245811 May 09, 2011 (134)
32 TISHKOFF ss563152061 Apr 25, 2013 (138)
33 SSMP ss658705116 Apr 25, 2013 (138)
34 EVA-GONL ss989508813 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1078444672 Aug 21, 2014 (142)
36 1000GENOMES ss1344916029 Aug 21, 2014 (142)
37 DDI ss1426926875 Apr 01, 2015 (144)
38 EVA_GENOME_DK ss1576268794 Apr 01, 2015 (144)
39 EVA_DECODE ss1599179229 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1628541193 Apr 01, 2015 (144)
41 EVA_UK10K_TWINSUK ss1671535226 Apr 01, 2015 (144)
42 EVA_SVP ss1713325846 Apr 01, 2015 (144)
43 HAMMER_LAB ss1807234421 Sep 08, 2015 (146)
44 WEILL_CORNELL_DGM ss1932873413 Feb 12, 2016 (147)
45 ILLUMINA ss1959432024 Feb 12, 2016 (147)
46 GENOMED ss1967585465 Jul 19, 2016 (147)
47 JJLAB ss2027188028 Sep 14, 2016 (149)
48 ILLUMINA ss2094793472 Dec 20, 2016 (150)
49 ILLUMINA ss2095034826 Dec 20, 2016 (150)
50 USC_VALOUEV ss2155523606 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2189579636 Dec 20, 2016 (150)
52 TOPMED ss2353511973 Dec 20, 2016 (150)
53 SYSTEMSBIOZJU ss2628073880 Nov 08, 2017 (151)
54 GRF ss2699866464 Nov 08, 2017 (151)
55 ILLUMINA ss2710760440 Nov 08, 2017 (151)
56 GNOMAD ss2910205936 Nov 08, 2017 (151)
57 AFFY ss2984973737 Nov 08, 2017 (151)
58 AFFY ss2985615964 Nov 08, 2017 (151)
59 SWEGEN ss3009644766 Nov 08, 2017 (151)
60 ILLUMINA ss3021427713 Nov 08, 2017 (151)
61 BIOINF_KMB_FNS_UNIBA ss3027402271 Nov 08, 2017 (151)
62 TOPMED ss3170213435 Nov 08, 2017 (151)
63 CSHL ss3350053246 Nov 08, 2017 (151)
64 URBANLAB ss3649833042 Oct 12, 2018 (152)
65 ILLUMINA ss3651804243 Oct 12, 2018 (152)
66 ILLUMINA ss3651804244 Oct 12, 2018 (152)
67 ILLUMINA ss3653746873 Oct 12, 2018 (152)
68 EGCUT_WGS ss3676921203 Jul 13, 2019 (153)
69 EVA_DECODE ss3693620566 Jul 13, 2019 (153)
70 ILLUMINA ss3725322303 Jul 13, 2019 (153)
71 ACPOP ss3739000287 Jul 13, 2019 (153)
72 EVA ss3750450303 Jul 13, 2019 (153)
73 PAGE_CC ss3771688807 Jul 13, 2019 (153)
74 KHV_HUMAN_GENOMES ss3815780618 Jul 13, 2019 (153)
75 1000Genomes NC_000012.11 - 48302545 Oct 12, 2018 (152)
76 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 48302545 Oct 12, 2018 (152)
77 Genetic variation in the Estonian population NC_000012.11 - 48302545 Oct 12, 2018 (152)
78 gnomAD - Genomes NC_000012.11 - 48302545 Jul 13, 2019 (153)
79 Northern Sweden NC_000012.11 - 48302545 Jul 13, 2019 (153)
80 The PAGE Study NC_000012.12 - 47908762 Jul 13, 2019 (153)
81 TopMed NC_000012.12 - 47908762 Oct 12, 2018 (152)
82 UK 10K study - Twins NC_000012.11 - 48302545 Oct 12, 2018 (152)
83 A Vietnamese Genetic Variation Database NC_000012.11 - 48302545 Jul 13, 2019 (153)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs17883968 Mar 11, 2006 (126)
rs56977367 Feb 27, 2009 (130)
rs60432410 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss82257204, ss82585597 NC_000012.9:46588811:C:T NC_000012.12:47908761:C:T (self)
ss89138150, ss111908706, ss113509539, ss118787280, ss168259625, ss169774023, ss175118096, ss198141245, ss255097190, ss281387855, ss286557639, ss291245811, ss1599179229, ss1713325846 NC_000012.10:46588811:C:T NC_000012.12:47908761:C:T (self)
57661129, 32019597, 22659451, 157362617, 12285152, 32019597, 7109597, ss225742098, ss235927043, ss242488161, ss563152061, ss658705116, ss989508813, ss1078444672, ss1344916029, ss1426926875, ss1576268794, ss1628541193, ss1671535226, ss1807234421, ss1932873413, ss1959432024, ss1967585465, ss2027188028, ss2094793472, ss2095034826, ss2155523606, ss2353511973, ss2628073880, ss2699866464, ss2710760440, ss2910205936, ss2984973737, ss2985615964, ss3009644766, ss3021427713, ss3350053246, ss3651804243, ss3651804244, ss3653746873, ss3676921203, ss3739000287, ss3750450303 NC_000012.11:48302544:C:T NC_000012.12:47908761:C:T (self)
910276, 83247528, ss2189579636, ss3027402271, ss3170213435, ss3649833042, ss3693620566, ss3725322303, ss3771688807, ss3815780618 NC_000012.12:47908761:C:T NC_000012.12:47908761:C:T (self)
ss20872921 NT_029419.10:10445850:C:T NC_000012.12:47908761:C:T (self)
ss16340094, ss20420955, ss32465643, ss38892478, ss66146303, ss76169624, ss82889329, ss104805086, ss105437910, ss132126623, ss133153654, ss172699314, ss244272774 NT_029419.12:10445850:C:T NC_000012.12:47908761:C:T (self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

94 citations for rs11568820
PMID Title Author Year Journal
17903296 Genome-wide association with bone mass and geometry in the Framingham Heart Study. Kiel DP et al. 2007 BMC medical genetics
18086759 Vitamin D receptor gene polymorphisms and epithelial ovarian cancer risk. Lurie G et al. 2007 Cancer epidemiology, biomarkers & prevention
18086783 CDX2 VDR polymorphism and colorectal cancer. Slattery ML et al. 2007 Cancer epidemiology, biomarkers & prevention
18205531 Vitamin D receptor gene haplotypes and susceptibility to HIV-1 infection in injection drug users. de la Torre MS et al. 2008 The Journal of infectious diseases
18419802 Vitamin D receptor gene polymorphisms and haplotypes and postmenopausal breast cancer risk. Abbas S et al. 2008 Breast cancer research
18628249 Association of vitamin D receptor gene variants, adiposity and colon cancer. Ochs-Balcom HM et al. 2008 Carcinogenesis
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. Theodoratou E et al. 2008 International journal of cancer
18936471 Circulating 25-hydroxyvitamin D, VDR polymorphisms, and survival in advanced non-small-cell lung cancer. Heist RS et al. 2008 Journal of clinical oncology
18992263 Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways. Slattery ML et al. 2009 Mutation research
19223536 Polymorphisms in the vitamin D receptor and risk of ovarian cancer in four studies. Tworoger SS et al. 2009 Cancer research
19255064 Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. Ahn J et al. 2009 Carcinogenesis
19309297 Higher milk requirements for bone mineral accrual in adolescent girls bearing specific caucasian genotypes in the VDR promoter. Esterle L et al. 2009 Journal of bone and mineral research
19450131 Application of pharmacogenomics to vaccines. Poland GA et al. 2009 Pharmacogenomics
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. Randerson-Moor JA et al. 2009 European journal of cancer (Oxford, England
19682379 TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population. Lins TC et al. 2009 Journal of biomedical science
19770375 Serum 25-hydroxyvitamin D3 levels are associated with breslow thickness at presentation and survival from melanoma. Newton-Bishop JA et al. 2009 Journal of clinical oncology
19841454 Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture. Richards JB et al. 2009 Annals of internal medicine
19902255 Rubella vaccine-induced cellular immunity: evidence of associations with polymorphisms in the Toll-like, vitamin A and D receptors, and innate immune response genes. Ovsyannikova IG et al. 2010 Human genetics
19960008 Association between VDR and ESR1 gene polymorphisms with bone and obesity phenotypes in Chinese male nuclear families. Gu JM et al. 2009 Acta pharmacologica Sinica
20007432 Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis. Simon KC et al. 2010 Multiple sclerosis (Houndmills, Basingstoke, England)
20015871 Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia. te Winkel ML et al. 2010 Haematologica
20086113 Genetic variation in the vitamin D receptor (VDR) and the vitamin D-binding protein (GC) and risk for colorectal cancer: results from the Colon Cancer Family Registry. Poynter JN et al. 2010 Cancer epidemiology, biomarkers & prevention
20145122 Genetic polymorphisms in vitamin D receptor VDR/RXRA influence the likelihood of colon adenoma recurrence. Egan JB et al. 2010 Cancer research
20357209 Molecular genetic studies of gene identification for osteoporosis: the 2009 update. Xu XH et al. 2010 Endocrine reviews
20361340 Polymorphism in vitamin D receptor is associated with bone mineral density in patients with adolescent idiopathic scoliosis. Suh KT et al. 2010 European spine journal
20432164 Calcium, vitamin D, VDR genotypes, and epigenetic and genetic changes in rectal tumors. Slattery ML et al. 2010 Nutrition and cancer
20687218 Vitamin D pathway gene variants and prostate cancer prognosis. Holt SK et al. 2010 The Prostate
21048058 Vitamin D receptor gene polymorphisms are associated with adiposity phenotypes. Ochs-Balcom HM et al. 2011 The American journal of clinical nutrition
21358824 Prostate cancer susceptibility Loci identified on chromosome 12 in African Americans. Bonilla C et al. 2011 PloS one
21365644 Vitamin D receptor polymorphisms in patients with cutaneous melanoma. Orlow I et al. 2012 International journal of cancer
21441443 Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes. Cooper JD et al. 2011 Diabetes
21931507 Population analysis of vitamin D receptor polymorphisms and the role of genetic ancestry in an admixed population. Lins TC et al. 2011 Genetics and molecular biology
22037866 Genes and the ageing muscle: a review on genetic association studies. Garatachea N et al. 2013 Age (Dordrecht, Netherlands)
22046258 Genetic associations in the vitamin D receptor and colorectal cancer in African Americans and Caucasians. Kupfer SS et al. 2011 PloS one
22110781 Vitamin D receptor (VDR) polymorphisms and skin cancer: A systematic review. Denzer N et al. 2011 Dermato-endocrinology
22170372 Vitamin D receptor and megalin gene polymorphisms and their associations with longitudinal cognitive change in US adults. Beydoun MA et al. 2012 The American journal of clinical nutrition
22213340 25-hydroxyvitamin D, vitamin D receptor gene polymorphisms, and severity of Parkinson's disease. Suzuki M et al. 2012 Movement disorders
22242137 Prognostic significance of vitamin D receptor polymorphisms in head and neck squamous cell carcinoma. Hama T et al. 2011 PloS one
22306846 Vitamin D receptor and Alzheimer's disease: a genetic and functional study. Wang L et al. 2012 Neurobiology of aging
22480149 Variants in the vitamin D pathway, serum levels of vitamin D, and estrogen receptor negative breast cancer among African-American women: a case-control study. Yao S et al. 2012 Breast cancer research
22879966 Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study. Verschuren JJ et al. 2012 PloS one
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). Frederiksen B et al. 2013 The Journal of steroid biochemistry and molecular biology
23185470 Vitamin D in a northern Canadian first nation population: dietary intake, serum concentrations and functional gene polymorphisms. Larcombe L et al. 2012 PloS one
23300018 Vitamin D receptor genotype rs731236 (Taq1) and breast cancer prognosis. Perna L et al. 2013 Cancer epidemiology, biomarkers & prevention
23467735 Plasma Vitamin D Levels And Vitamin D Receptor Polymorphisms Are Associated with Survival of Non-small Cell Lung Cancer. Liu Y et al. 2011 Chinese journal of cancer research = Chung-kuo yen cheng yen chiu
23546818 Vitamin D and calcium-sensing receptor polymorphisms differentially associate with resting energy expenditure in peripubertal children. Hanks LJ et al. 2013 Journal of bone and mineral metabolism
23946381 Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Ma X et al. 2014 Gut
24075799 Vitamin D receptor polymorphism and colorectal cancer-specific and all-cause mortality. Perna L et al. 2013 Cancer epidemiology
24381141 Vitamin D receptor gene polymorphisms and esophageal cancer risk in a Chinese population: a negative study. Gu H et al. 2014 Medical oncology (Northwood, London, England)
24389498 Relation of the estrogen receptor and vitamin D receptor polymorphisms with bone mineral density in postmenopausal Mexican-mestizo women. Rojano-Mejía D et al. 2014 Gene
24415299 Juvenile idiopathic arthritis patients and their skeletal status: possible role of vitamin D receptor gene polymorphism. Kostik MM et al. 2014 Molecular biology reports
24768180 Vitamin-D pathway genes and HIV-1 disease progression in injection drug users. Laplana M et al. 2014 Gene
24926819 Increased risk of developing cutaneous malignant melanoma is associated with variation in pigmentation genes and VDR, and may involve epistatic effects. Kosiniak-Kamysz A et al. 2014 Melanoma research
25002714 Plasma vitamin D concentration influences survival outcome after a diagnosis of colorectal cancer. Zgaga L et al. 2014 Journal of clinical oncology
25008423 Vitamin D receptor polymorphisms and susceptibility to Parkinson's disease and Alzheimer's disease: a meta-analysis. Lee YH et al. 2014 Neurological sciences
25266489 Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China. Zhang J et al. 2014 BMC genetics
25377645 Polymorphisms in the vitamin D receptor and risk of gout in Chinese Han male population. Liu SG et al. 2015 Rheumatology international
25541958 Association of single nucleotide polymorphisms in VDR and DBP genes with HBV-related hepatocellular carcinoma risk in a Chinese population. Peng Q et al. 2014 PloS one
25738688 Meta-analysis on vitamin D receptor and cancer risk: focus on the role of TaqI, ApaI, and Cdx2 polymorphisms. Serrano D et al. 2016 European journal of cancer prevention
25787039 Genetic variations in the vitamin-D receptor (VDR) gene in preeclampsia patients in the Chinese Han population. Zhan Y et al. 2015 Hypertension research
25945350 Variants of SCARB1 and VDR Involved in Complex Genetic Interactions May Be Implicated in the Genetic Susceptibility to Clear Cell Renal Cell Carcinoma. Pośpiech E et al. 2015 BioMed research international
26091847 Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China. Wang L et al. 2015 BMC genetics
26141257 Low vitamin D status is associated with more depressive symptoms in Dutch older adults. Brouwer-Brolsma EM et al. 2016 European journal of nutrition
26400282 Relationship between vitamin D receptor (VDR) polymorphisms and the efficacy of recombinant human growth hormone (rhGH) treatment in children with idiopathic short stature. Wang W et al. 2015 Genetics and molecular research
26699871 Genetic Variations in the Vitamin D Receptor Predict Type 2 Diabetes and Myocardial Infarction in a Community-Based Population: The Tromsø Study. Zostautiene I et al. 2015 PloS one
26756741 Systematic Review of the Relationship between Vitamin D and Parkinson's Disease. Rimmelzwaan LM et al. 2016 Journal of Parkinson's disease
26921301 Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes. Tiosano D et al. 2016 G3 (Bethesda, Md.)
26955828 Low serum vitamin D is associated with axial length and risk of myopia in young children. Tideman JW et al. 2016 European journal of epidemiology
27114922 Vitamin D receptor gene polymorphism in Egyptian pediatric acute lymphoblastic leukemia correlation with BMD. Tantawy M et al. 2016 Meta gene
27174575 The vitamin D receptor gene ApaI polymorphism is associated with increased risk of renal cell carcinoma in Chinese population. Yang C et al. 2016 Scientific reports
27233804 Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China. Jin T et al. 2016 BMC genetics
27277665 Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population. Zholdybayeva EV et al. 2016 Human genomics
27435453 Associations of vitamin D deficiency and vitamin D receptor (Cdx-2, Fok I, Bsm I and Taq I) polymorphisms with the risk of primary open-angle glaucoma. Lv Y et al. 2016 BMC ophthalmology
27669215 Vitamin D-Related Gene Polymorphisms, Plasma 25-Hydroxy-Vitamin D, Cigarette Smoke and Non-Small Cell Lung Cancer (NSCLC) Risk. Wu X et al. 2016 International journal of molecular sciences
27672714 Relationship between vitamin D receptor gene polymorphisms, cardiovascular risk factors and adiponectin in a healthy young population. Hajj A et al. 2016 Pharmacogenomics
27736940 Vitamin D Receptor Gene Polymorphism and the Risk of Colorectal Cancer: A Nested Case-Control Study. Budhathoki S et al. 2016 PloS one
28262345 Influence of NR3C1 and VDR polymorphisms on stable warfarin dose in patients with mechanical cardiac valves. Lee KE et al. 2017 International journal of cardiology
28362172 Vitamin D Signaling Pathways Confer the Susceptibility of Esophageal Squamous Cell Carcinoma in a Northern Chinese Population. Yang J et al. 2017 Nutrition and cancer
28411367 Serum 25(OH)D concentration, common variants of the VDR gene and lung cancer occurrence. Gromowski T et al. 2017 International journal of cancer
28446629 Vitamin D Receptor and Megalin Gene Polymorphisms Are Associated with Longitudinal Cognitive Change among African-American Urban Adults. Beydoun MA et al. 2017 The Journal of nutrition
28489590 Polymorphisms of VDR gene and risk of gastric cardiac adenocarcinoma in Chinese population. Yin J et al. 2017 Oncotarget
28692301 High-Dose Vitamin D<sub>3</sub> during Tuberculosis Treatment in Mongolia. A Randomized Controlled Trial. Ganmaa D et al. 2017 American journal of respiratory and critical care medicine
29128634 Vitamin D receptor (VDR) polymorphisms are associated to spontaneous preterm birth and maternal aspects. Javorski N et al. 2018 Gene
29777458 Increased vitamin D receptor gene expression and rs11568820 and rs4516035 promoter polymorphisms in autistic disorder. Balta B et al. 2018 Molecular biology reports
29808256 Cdx-2 polymorphism in the vitamin D receptor gene (VDR) marks VDR expression in monocyte/macrophages through VDR promoter methylation. Meyer V et al. 2018 Immunogenetics
29922235 Association of Vitamin D Receptor Gene Variation With Osteoporosis Risk in Belarusian and Lithuanian Postmenopausal Women. Marozik PM et al. 2018 Frontiers in endocrinology
30018118 Vitamin D Supplementation and Survival of Patients with Non-small Cell Lung Cancer: A Randomized, Double-Blind, Placebo-Controlled Trial. Akiba T et al. 2018 Clinical cancer research
30132432 Vitamin D receptor genotype influences risk of upper respiratory infection. Jolliffe DA et al. 2018 The British journal of nutrition
30692241 Maternal and Newborn Vitamin D-Binding Protein, Vitamin D Levels, Vitamin D Receptor Genotype, and Childhood Type 1 Diabetes. Tapia G et al. 2019 Diabetes care
30841566 <i>VDR</i> rs2228570 Polymorphism Is Related to Non-Progression to AIDS in Antiretroviral Therapy Naïve HIV-Infected Patients. Jiménez-Sousa MA et al. 2019 Journal of clinical medicine
30963970 Association of Vitamin D Gene Polymorphisms and Bone Mineral Density in Healthy young Saudi Females. Taha IM et al. 2019 Current molecular medicine
31023832 Low plasma vitamin D is associated with adverse colorectal cancer survival after surgical resection, independent of systemic inflammatory response. Vaughan-Shaw PG et al. 2019 Gut
31089932 Anti-Müllerian hormone level is associated with vitamin D receptor polymorphisms in women with polycystic ovary syndrome. Szafarowska M et al. 2019 Journal of assisted reproduction and genetics

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post270+ab078da