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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.

rs1544410

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr12:47846052 (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.

Alleles
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.33462 (42017/125568, TOPMED)
T=0.2744 (21596/78696, PAGE_STUDY)
T=0.3390 (10621/31334, GnomAD) (+ 6 more)
T=0.296 (1482/5008, 1000G)
T=0.356 (1595/4480, Estonian)
T=0.407 (1569/3854, ALSPAC)
T=0.410 (1519/3708, TWINSUK)
T=0.41 (244/600, NorthernSweden)
T=0.08 (17/214, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
VDR : Intron Variant
Publications
338 citations
Genomic View
See rs on genome
Help

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.47846052C>A
GRCh38.p12 chr 12 NC_000012.12:g.47846052C>G
GRCh38.p12 chr 12 NC_000012.12:g.47846052C>T
GRCh37.p13 chr 12 NC_000012.11:g.48239835C>A
GRCh37.p13 chr 12 NC_000012.11:g.48239835C>G
GRCh37.p13 chr 12 NC_000012.11:g.48239835C>T
VDR RefSeqGene NG_008731.1:g.63980G>T
VDR RefSeqGene NG_008731.1:g.63980G>C
VDR RefSeqGene NG_008731.1:g.63980G>A
Gene: VDR, vitamin D receptor (minus strand)
Molecule type Change Amino acid[Codon] SO Term
VDR transcript variant 1 NM_000376.3:c. N/A Intron Variant
VDR transcript variant 2 NM_001017535.1:c. N/A Intron Variant
VDR transcript variant 3 NM_001017536.2:c. N/A Intron Variant
VDR transcript variant 1 NM_001364085.1:c. N/A Intron Variant
VDR transcript variant X3 XM_006719587.3:c. N/A Intron Variant
VDR transcript variant X2 XM_011538720.2:c. N/A Intron Variant
VDR transcript variant X1 XM_024449178.1:c. N/A Intron Variant
Help

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
Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 C=0.66538 T=0.33462
The PAGE Study Global Study-wide 78696 C=0.7256 T=0.2744
The PAGE Study AfricanAmerican Sub 32516 C=0.6999 T=0.3001
The PAGE Study Mexican Sub 10810 C=0.7675 T=0.2325
The PAGE Study Asian Sub 8318 C=0.894 T=0.106
The PAGE Study PuertoRican Sub 7914 C=0.658 T=0.342
The PAGE Study NativeHawaiian Sub 4534 C=0.780 T=0.220
The PAGE Study Cuban Sub 4230 C=0.637 T=0.363
The PAGE Study Dominican Sub 3828 C=0.659 T=0.341
The PAGE Study CentralAmerican Sub 2450 C=0.747 T=0.253
The PAGE Study SouthAmerican Sub 1982 C=0.760 T=0.240
The PAGE Study NativeAmerican Sub 1258 C=0.665 T=0.335
The PAGE Study SouthAsian Sub 856 C=0.55 T=0.45
gnomAD - Genomes Global Study-wide 31334 C=0.6610 T=0.3390
gnomAD - Genomes European Sub 18850 C=0.6215 T=0.3785
gnomAD - Genomes African Sub 8700 C=0.694 T=0.306
gnomAD - Genomes East Asian Sub 1560 C=0.951 T=0.049
gnomAD - Genomes Other Sub 1088 C=0.637 T=0.363
gnomAD - Genomes American Sub 846 C=0.73 T=0.27
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.58 T=0.42
1000Genomes Global Study-wide 5008 C=0.704 T=0.296
1000Genomes African Sub 1322 C=0.728 T=0.272
1000Genomes East Asian Sub 1008 C=0.936 T=0.064
1000Genomes Europe Sub 1006 C=0.596 T=0.404
1000Genomes South Asian Sub 978 C=0.52 T=0.48
1000Genomes American Sub 694 C=0.74 T=0.26
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.644 T=0.356
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.593 T=0.407
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.590 T=0.410
Northern Sweden ACPOP Study-wide 600 C=0.59 T=0.41
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.92 T=0.08
Help

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= A G T Note
GRCh38.p12 chr 12 NC_000012.12:...

NC_000012.12:g.47846052=

NC_000012.12:...

NC_000012.12:g.47846052C>A

NC_000012.12:...

NC_000012.12:g.47846052C>G

NC_000012.12:...

NC_000012.12:g.47846052C>T

GRCh37.p13 chr 12 NC_000012.11:...

NC_000012.11:g.48239835=

NC_000012.11:...

NC_000012.11:g.48239835C>A

NC_000012.11:...

NC_000012.11:g.48239835C>G

NC_000012.11:...

NC_000012.11:g.48239835C>T

VDR RefSeqGene NG_008731.1:g...

NG_008731.1:g.63980=

NG_008731.1:g...

NG_008731.1:g.63980G>T

NG_008731.1:g...

NG_008731.1:g.63980G>C

NG_008731.1:g...

NG_008731.1:g.63980G>A

Help

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#.

112 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2386599 Oct 23, 2000 (88)
2 HGBASE ss2420960 Nov 14, 2000 (89)
3 CUORCGL ss12568610 Aug 26, 2003 (117)
4 SC_SNP ss15937821 Feb 27, 2004 (120)
5 EGP_SNPS ss16359235 Feb 27, 2004 (120)
6 JDRF_WT_DIL ss20420898 Apr 05, 2004 (121)
7 SNP500CANCER ss48297641 Mar 13, 2006 (126)
8 ILLUMINA ss66672825 Dec 02, 2006 (127)
9 EGP_SNPS ss66856964 Dec 02, 2006 (127)
10 ILLUMINA ss67129740 Dec 02, 2006 (127)
11 ILLUMINA ss67469222 Dec 02, 2006 (127)
12 PHARMGKB_PAAR-SJCRH ss69369184 May 18, 2007 (127)
13 ILLUMINA ss70441924 May 18, 2007 (127)
14 ILLUMINA ss70630809 May 23, 2008 (130)
15 ILLUMINA ss71180808 May 18, 2007 (127)
16 ILLUMINA ss75609594 Dec 07, 2007 (129)
17 AFFY ss76742686 Dec 08, 2007 (130)
18 HGSV ss77456950 Dec 07, 2007 (129)
19 HGSV ss78325543 Dec 07, 2007 (129)
20 KRIBB_YJKIM ss83826989 Dec 14, 2007 (130)
21 BCMHGSC_JDW ss89137841 Mar 24, 2008 (129)
22 1000GENOMES ss111908008 Jan 25, 2009 (130)
23 ILLUMINA ss121744777 Dec 01, 2009 (131)
24 ENSEMBL ss133153451 Dec 01, 2009 (131)
25 ILLUMINA ss153505010 Dec 01, 2009 (131)
26 ILLUMINA ss159283019 Dec 01, 2009 (131)
27 ILLUMINA ss160370038 Dec 01, 2009 (131)
28 ILLUMINA ss170630844 Jul 04, 2010 (132)
29 ILLUMINA ss172570649 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss175117865 Jul 04, 2010 (132)
31 BCM-HGSC-SUB ss208343569 Jul 04, 2010 (132)
32 1000GENOMES ss211279908 Jul 14, 2010 (132)
33 1000GENOMES ss225741843 Jul 14, 2010 (132)
34 1000GENOMES ss235926870 Jul 15, 2010 (132)
35 1000GENOMES ss242488038 Jul 15, 2010 (132)
36 ILLUMINA ss244280050 Jul 04, 2010 (132)
37 PJP ss291245703 May 09, 2011 (134)
38 BASICKPUM ss410758787 Sep 17, 2011 (135)
39 ILLUMINA ss480025561 May 04, 2012 (137)
40 ILLUMINA ss480034382 May 04, 2012 (137)
41 ILLUMINA ss480697591 Sep 08, 2015 (146)
42 ILLUMINA ss484810976 May 04, 2012 (137)
43 ILLUMINA ss536891135 Sep 08, 2015 (146)
44 TISHKOFF ss563151814 Apr 25, 2013 (138)
45 SSMP ss658704753 Apr 25, 2013 (138)
46 ILLUMINA ss778812339 Aug 21, 2014 (142)
47 ILLUMINA ss782852050 Aug 21, 2014 (142)
48 ILLUMINA ss783816570 Aug 21, 2014 (142)
49 ILLUMINA ss825410908 Jul 19, 2016 (147)
50 ILLUMINA ss832105941 Apr 01, 2015 (144)
51 ILLUMINA ss832795152 Aug 21, 2014 (142)
52 ILLUMINA ss833385982 Aug 21, 2014 (142)
53 ILLUMINA ss834272611 Aug 21, 2014 (142)
54 EVA-GONL ss989508325 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1078444315 Aug 21, 2014 (142)
56 1000GENOMES ss1344914019 Aug 21, 2014 (142)
57 DDI ss1426926732 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1576268446 Apr 01, 2015 (144)
59 EVA_DECODE ss1599178749 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1628540180 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1671534213 Apr 01, 2015 (144)
62 EVA_SVP ss1713325793 Apr 01, 2015 (144)
63 ILLUMINA ss1752069126 Sep 08, 2015 (146)
64 HAMMER_LAB ss1807234229 Sep 08, 2015 (146)
65 WEILL_CORNELL_DGM ss1932872893 Feb 12, 2016 (147)
66 ILLUMINA ss1959431960 Feb 12, 2016 (147)
67 JJLAB ss2027187812 Sep 14, 2016 (149)
68 ILLUMINA ss2094793391 Dec 20, 2016 (150)
69 ILLUMINA ss2095034759 Dec 20, 2016 (150)
70 USC_VALOUEV ss2155523380 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2189575540 Dec 20, 2016 (150)
72 TOPMED ss2353508007 Dec 20, 2016 (150)
73 SYSTEMSBIOZJU ss2628073754 Nov 08, 2017 (151)
74 ILLUMINA ss2632956194 Nov 08, 2017 (151)
75 GRF ss2699866175 Nov 08, 2017 (151)
76 ILLUMINA ss2710760403 Nov 08, 2017 (151)
77 GNOMAD ss2910200602 Nov 08, 2017 (151)
78 AFFY ss2984973699 Nov 08, 2017 (151)
79 AFFY ss2985615944 Nov 08, 2017 (151)
80 SWEGEN ss3009644037 Nov 08, 2017 (151)
81 ILLUMINA ss3021427641 Nov 08, 2017 (151)
82 BIOINF_KMB_FNS_UNIBA ss3027402146 Nov 08, 2017 (151)
83 TOPMED ss3170201530 Nov 08, 2017 (151)
84 TOPMED ss3170201531 Nov 08, 2017 (151)
85 TOPMED ss3170201532 Nov 08, 2017 (151)
86 CSHL ss3350053061 Nov 08, 2017 (151)
87 ILLUMINA ss3626870900 Oct 12, 2018 (152)
88 ILLUMINA ss3630965564 Oct 12, 2018 (152)
89 ILLUMINA ss3633019493 Oct 12, 2018 (152)
90 ILLUMINA ss3633720379 Oct 12, 2018 (152)
91 ILLUMINA ss3634502639 Oct 12, 2018 (152)
92 ILLUMINA ss3635411172 Oct 12, 2018 (152)
93 ILLUMINA ss3636188351 Oct 12, 2018 (152)
94 ILLUMINA ss3637162154 Oct 12, 2018 (152)
95 ILLUMINA ss3637961238 Oct 12, 2018 (152)
96 ILLUMINA ss3638994722 Oct 12, 2018 (152)
97 ILLUMINA ss3639499446 Oct 12, 2018 (152)
98 ILLUMINA ss3640209972 Oct 12, 2018 (152)
99 ILLUMINA ss3641030155 Oct 12, 2018 (152)
100 ILLUMINA ss3641324868 Oct 12, 2018 (152)
101 ILLUMINA ss3642954995 Oct 12, 2018 (152)
102 ILLUMINA ss3651804116 Oct 12, 2018 (152)
103 ILLUMINA ss3653746835 Oct 12, 2018 (152)
104 EGCUT_WGS ss3676920469 Jul 13, 2019 (153)
105 EVA_DECODE ss3693619616 Jul 13, 2019 (153)
106 ILLUMINA ss3725322225 Jul 13, 2019 (153)
107 ACPOP ss3738999875 Jul 13, 2019 (153)
108 ILLUMINA ss3744803329 Jul 13, 2019 (153)
109 EVA ss3750449676 Jul 13, 2019 (153)
110 PAGE_CC ss3771688751 Jul 13, 2019 (153)
111 ILLUMINA ss3772302819 Jul 13, 2019 (153)
112 KHV_HUMAN_GENOMES ss3815780043 Jul 13, 2019 (153)
113 1000Genomes NC_000012.11 - 48239835 Oct 12, 2018 (152)
114 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 48239835 Oct 12, 2018 (152)
115 Genetic variation in the Estonian population NC_000012.11 - 48239835 Oct 12, 2018 (152)
116 gnomAD - Genomes NC_000012.11 - 48239835 Jul 13, 2019 (153)
117 Northern Sweden NC_000012.11 - 48239835 Jul 13, 2019 (153)
118 The PAGE Study NC_000012.12 - 47846052 Jul 13, 2019 (153)
119 TopMed NC_000012.12 - 47846052 Oct 12, 2018 (152)
120 UK 10K study - Twins NC_000012.11 - 48239835 Oct 12, 2018 (152)
121 A Vietnamese Genetic Variation Database NC_000012.11 - 48239835 Jul 13, 2019 (153)
Help

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)
rs56495123 May 23, 2008 (130)
rs56911380 May 23, 2008 (130)
rs386536760 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3170201530 NC_000012.12:47846051:C:A NC_000012.12:47846051:C:A (self)
ss3170201531 NC_000012.12:47846051:C:G NC_000012.12:47846051:C:G (self)
ss77456950, ss78325543, ss3638994722, ss3639499446 NC_000012.9:46526101:C:T NC_000012.12:47846051:C:T (self)
ss89137841, ss111908008, ss175117865, ss208343569, ss211279908, ss291245703, ss480025561, ss825410908, ss1599178749, ss1713325793, ss3642954995 NC_000012.10:46526101:C:T NC_000012.12:47846051:C:T (self)
57659058, 32018502, 22658717, 157357237, 12284740, 32018502, 7109369, ss225741843, ss235926870, ss242488038, ss480034382, ss480697591, ss484810976, ss536891135, ss563151814, ss658704753, ss778812339, ss782852050, ss783816570, ss832105941, ss832795152, ss833385982, ss834272611, ss989508325, ss1078444315, ss1344914019, ss1426926732, ss1576268446, ss1628540180, ss1671534213, ss1752069126, ss1807234229, ss1932872893, ss1959431960, ss2027187812, ss2094793391, ss2095034759, ss2155523380, ss2353508007, ss2628073754, ss2632956194, ss2699866175, ss2710760403, ss2910200602, ss2984973699, ss2985615944, ss3009644037, ss3021427641, ss3350053061, ss3626870900, ss3630965564, ss3633019493, ss3633720379, ss3634502639, ss3635411172, ss3636188351, ss3637162154, ss3637961238, ss3640209972, ss3641030155, ss3641324868, ss3651804116, ss3653746835, ss3676920469, ss3738999875, ss3744803329, ss3750449676, ss3772302819 NC_000012.11:48239834:C:T NC_000012.12:47846051:C:T (self)
910220, 83237672, ss2189575540, ss3027402146, ss3170201532, ss3693619616, ss3725322225, ss3771688751, ss3815780043 NC_000012.12:47846051:C:T NC_000012.12:47846051:C:T (self)
ss15937821 NT_029419.10:10383140:C:T NC_000012.12:47846051:C:T (self)
ss2386599, ss2420960, ss12568610, ss16359235, ss20420898, ss48297641, ss66672825, ss66856964, ss67129740, ss67469222, ss69369184, ss70441924, ss70630809, ss71180808, ss75609594, ss76742686, ss83826989, ss121744777, ss133153451, ss153505010, ss159283019, ss160370038, ss170630844, ss172570649, ss244280050, ss410758787 NT_029419.12:10383140:C:T NC_000012.12:47846051:C:T (self)
Help

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

338 citations for rs1544410
PMID Title Author Year Journal
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. Dvornyk V et al. 2004 BMC genetics
15157284 Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes. Long JR et al. 2004 BMC genetics
15651992 Variants in the vitamin D receptor gene and asthma. Wjst M et al. 2005 BMC genetics
15726497 Gene-environment interaction effects on the development of immune responses in the 1st year of life. Hoffjan S et al. 2005 American journal of human genetics
16279845 Vitamin D receptor polymorphisms are associated with Graves' disease in German and Polish but not in Serbian patients. Ramos-Lopez E et al. 2005 Thyroid
16600026 Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway. Wjst M et al. 2006 Respiratory research
16634022 Polymorphisms in the vitamin D receptor and their associations with risk of schizophrenia and selected anthropometric measures. Handoko HY et al. 2006 American journal of human biology
17135034 Polymorphisms of the vitamin D receptor gene predict the onset of surgical menopause in Caucasian females. Dvornyk V et al. 2006 Gynecological endocrinology
17244366 Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study. McCullough ML et al. 2007 Breast cancer research
17705862 Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples. Pullat J et al. 2007 BMC genomics
17867381 Vitamin D receptor gene (VDR) associations with cancer. Slattery ML et al. 2007 Nutrition reviews
17903296 Genome-wide association with bone mass and geometry in the Framingham Heart Study. Kiel DP et al. 2007 BMC medical genetics
17943423 Lack of association of VDR gene polymorphisms with thyroid autoimmune disorders: familial and case/control studies. Maalej A et al. 2008 Journal of clinical immunology
18079052 Vitamin D receptor polymorphisms and risk of epithelial ovarian cancer. Clendenen TV et al. 2008 Cancer letters
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
18161000 Family-based analysis of vitamin D receptor gene polymorphisms and type 1 diabetes in the population of South Croatia. Boraska V et al. 2008 Journal of human genetics
18182569 Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group. Davies SM et al. 2008 Blood
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
18205735 Association of vitamin D receptor gene polymorphisms in Chinese patients with generalized aggressive periodontitis. Li S et al. 2008 Journal of periodontal research
18246496 Vitamin D receptor polymorphisms and renal cancer risk in Central and Eastern Europe. Karami S et al. 2008 Journal of toxicology and environmental health. Part A
18279374 Association of vitamin D receptor gene 3'-variants with Hashimoto's thyroiditis in the Croatian population. Stefanić M et al. 2008 International journal of immunogenetics
18316854 Analysis of vitamin D receptor gene polymorphisms in patients with chronic periodontitis. Gunes S et al. 2008 The Indian journal of medical research
18361940 Lack of association of vitamin D receptor gene polymorphisms with susceptibility to type 1 diabetes mellitus in the Portuguese population. Lemos MC et al. 2008 Human immunology
18556337 Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1). Butty V et al. 2008 Diabetes
18587672 Vitamin D receptor variants and breast cancer risk in the Polish population. Gapska P et al. 2009 Breast cancer research and treatment
18593774 Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans. Engelman CD et al. 2008 The Journal of clinical endocrinology and metabolism
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
18828731 Vitamin D receptor gene polymorphisms have negligible effect on human height. Macgregor S et al. 2008 Twin research and human genetics
18849534 Association of genetic polymorphisms in vitamin D receptor gene and susceptibility to sporadic prostate cancer. Onen IH et al. 2008 Experimental biology and medicine (Maywood, N.J.)
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
18992148 Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study. Küry S et al. 2008 BMC cancer
18992263 Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways. Slattery ML et al. 2009 Mutation research
19124512 Vitamin D receptor polymorphisms and breast cancer risk: results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. McKay JD et al. 2009 Cancer epidemiology, biomarkers & prevention
19131662 A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients. Wang X et al. 2009 Stroke
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
19263529 Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach. Zee RY et al. 2009 Clinica chimica acta; international journal of clinical chemistry
19330901 Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study. Conen D et al. 2009 Journal of hypertension
19450131 Application of pharmacogenomics to vaccines. Poland GA et al. 2009 Pharmacogenomics
19454612 Vitamin D pathway gene variants and prostate cancer risk. Holt SK et al. 2009 Cancer epidemiology, biomarkers & prevention
19499989 Vitamin D receptor polymorphisms in differentiated thyroid carcinoma. Penna-Martinez M et al. 2009 Thyroid
19557980 Parathyroid hormone gene variant and calcific aortic stenosis. Schmitz F et al. 2009 The Journal of heart valve disease
19559392 A candidate gene association study of 77 polymorphisms in migraine. Schürks M et al. 2009 The journal of pain
19563249 No association between vitamin D receptor polymorphisms and coronary artery disease in a Chinese population. Pan XM et al. 2009 DNA and cell biology
19584489 Vitamin D receptor (FokI, BsmI and TaqI) gene polymorphisms and type 2 diabetes mellitus: a North Indian study. Bid HK et al. 2009 Indian journal of medical sciences
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
19622139 Association study between vitamin D receptor gene polymorphisms and asthma in the Chinese Han population: a case-control study. Saadi A et al. 2009 BMC medical genetics
19644412 Polymorphisms in the vitamin D receptor gene and risk of lung cancer. Dogan I et al. 2009 Medical science monitor
19679055 Vitamin D receptor variants and the malignant melanoma risk: a population-based study. Gapska P et al. 2009 Cancer epidemiology
19682379 TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population. Lins TC et al. 2009 Journal of biomedical science
19693091 Vitamin D receptor gene polymorphisms and distinct clinical phenotypes of hepatitis B carriers in Taiwan. Huang YW et al. 2010 Genes and immunity
19706842 Vitamin D receptor and calcium sensing receptor polymorphisms and the risk of colorectal cancer in European populations. Jenab M et al. 2009 Cancer epidemiology, biomarkers & prevention
19734102 Vitamin D receptor gene polymorphisms and susceptibility to type 1 diabetes in Crete, Greece. Panierakis C et al. 2009 Clinical immunology (Orlando, Fla.)
19753122 Analysis of SNPs and haplotypes in vitamin D pathway genes and renal cancer risk. Karami S et al. 2009 PloS one
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24903972 Genetic predisposition to calcific aortic stenosis and mitral annular calcification. Kutikhin AG et al. 2014 Molecular biology reports
24918970 Association of vitamin D receptor BsmI (rs1544410) gene polymorphism with the chronic kidney disease susceptibility. Zhou TB et al. 2015 Journal of receptor and signal transduction research
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24996287 Association of vitamin D receptor FokI and ApaI polymorphisms with lung cancer risk in Tunisian population. Kaabachi W et al. 2014 Molecular biology reports
25000366 Association of vitamin D receptor gene polymorphism with the urine calcium level in nephrolithiasis patients. Zhou TB et al. 2015 Journal of receptor and signal transduction research
25002714 Plasma vitamin D concentration influences survival outcome after a diagnosis of colorectal cancer. Zgaga L et al. 2014 Journal of clinical oncology
25007156 Association of vitamin D receptor BsmI (rs1544410) gene polymorphism with the intact parathyroid hormone (iPTH) level among patients with end-stage renal disease. Zhang YF et al. 2015 Journal of receptor and signal transduction research
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25347331 Association of vitamin D receptor gene polymorphisms with the susceptibility to ulcerative colitis in patients from Southeast China. Xia SL et al. 2015 Journal of receptor and signal transduction research
25377645 Polymorphisms in the vitamin D receptor and risk of gout in Chinese Han male population. Liu SG et al. 2015 Rheumatology international
25448747 Immunomodulatory effects of 25-hydroxyvitamin D3 on monocytic cell differentiation and influence of vitamin D3 polymorphisms in type 1 diabetes. Mauf S et al. 2015 The Journal of steroid biochemistry and molecular biology
25587543 T-cell cytokine gene polymorphisms and vitamin D pathway gene polymorphisms in end-stage renal disease due to type 2 diabetes mellitus nephropathy: comparisons with health status and other main causes of end-stage renal disease. Grzegorzewska AE et al. 2014 Journal of diabetes research
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25661837 Association between vitamin D receptor (VDR) gene polymorphisms and systemic lupus erythematosus in Portuguese patients. Carvalho C et al. 2015 Lupus
25689036 Expression of CYP3A4 and CYP3A7 in Human Foetal Tissues and its Correlation with Nuclear Receptors. Betts S et al. 2015 Basic & clinical pharmacology & toxicology
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25854779 Vitamin D Receptor Gene Polymorphism and the Risk of Multiple Sclerosis in South Eastern of Iran. Narooie-Nejad M et al. 2015 Journal of molecular neuroscience
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25899017 Effects of vitamin D receptor gene polymorphism and clinical characteristics on risk of diabetic retinopathy in Han Chinese type 2 diabetes patients. Zhong X et al. 2015 Gene
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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
26177022 Association of VDR and CYP2R1 Polymorphisms with Mite-Sensitized Persistent Allergic Rhinitis in a Chinese Population. Tian HQ et al. 2015 PloS one
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26393357 Lack of Influence of Vitamin D Receptor BsmI (rs1544410) Polymorphism on the Rate of Bone Loss in a Cohort of Postmenopausal Spanish Women Affected by Osteoporosis and Followed for Five Years. Pedrera-Canal M et al. 2015 PloS one
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26815041 Associations between vitamin D receptor gene polymorphisms and ankylosing spondylitis in Chinese Han population: a case-control study. Cai G et al. 2016 Osteoporosis international
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26872154 Low Vitamin-D Levels Combined with PKP3-SIGIRR-TMEM16J Host Variants Is Associated with Tuberculosis and Death in HIV-Infected and -Exposed Infants. Gupta A et al. 2016 PloS one
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27175669 The Association Between Genetic Polymorphism rs703842 in CYP27B1 and Multiple Sclerosis: A Meta-Analysis. Jiang T et al. 2016 Medicine
27186331 Prevalence of common vitamin D receptor gene polymorphisms in HIV-infected and uninfected South Africans. McNamara L et al. 2016 International journal of molecular epidemiology and genetics
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27309378 Association of Vitamin D Receptor Gene Polymorphisms with Colorectal Cancer in a Saudi Arabian Population. Alkhayal KA et al. 2016 PloS one
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27437086 Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences. Eom SY et al. 2016 Toxicological research
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27536155 The association between vitamin D receptor gene polymorphisms (TaqI and FokI), Type 2 diabetes, and micro-/macrovascular complications in postmenopausal women. Maia J et al. 2016 The application of clinical genetics
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27584680 Lead-Related Genetic Loci, Cumulative Lead Exposure and Incident Coronary Heart Disease: The Normative Aging Study. Ding N et al. 2016 PloS one
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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
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27736940 Vitamin D Receptor Gene Polymorphism and the Risk of Colorectal Cancer: A Nested Case-Control Study. Budhathoki S et al. 2016 PloS one
27763570 Vitamin D Status and Its Consequences for Health in South Africa. Norval M et al. 2016 International journal of environmental research and public health
27778467 Association between vitamin D receptor gene polymorphism and ankylosing spondylitis in Han Chinese. Zhang P et al. 2017 International journal of rheumatic diseases
27821924 Association of ACTN3 polymorphisms with BMD, and physical fitness of elderly women. Min SK et al. 2016 Journal of physical therapy science
27891515 The Association between VDR Gene Polymorphisms and Diabetic Retinopathy Susceptibility: A Systematic Review and Meta-Analysis. Zhang Y et al. 2016 BioMed research international
28216333 Vitamin D receptor gene polymorphisms, smoking, and risk of sporadic Parkinson's disease in Japan. Tanaka K et al. 2017 Neuroscience letters
28222408 Severe osteoporosis with multiple spontaneous vertebral fractures in a young male carrying triple polymorphisms in the vitamin D receptor, collagen type 1, and low-density lipoprotein receptor-related peptide 5 genes. Yavropoulou MP et al. 2016 Hormones (Athens, Greece)
28222630 Association of VDR polymorphisms ( Taq I and Bsm I) with prostate cancer: a new meta-analysis. Liu S et al. 2017 The Journal of international medical research
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
28285414 A population association study of vitamin D receptor gene polymorphisms and haplotypes with the risk of systemic lupus erythematosus in a Chinese population. Chen XE et al. 2017 Immunologic research
28301870 The impact of vitamin D pathway genetic variation and circulating 25-hydroxyvitamin D on cancer outcome: systematic review and meta-analysis. Vaughan-Shaw PG et al. 2017 British journal of cancer
28323045 Vitamin D receptor gene polymorphisms among Emirati patients with type 2 diabetes mellitus. Safar HA et al. 2018 The Journal of steroid biochemistry and molecular biology
28384983 Association Study of Vitamin D Receptor (VDR) - Related Genetic Polymorphisms and their Haplotypes with Chronic Periodontitis in Colombian Population. Tobón-Arroyave SI et al. 2017 Journal of clinical and diagnostic research
28385183 Vitamin D receptor gene polymorphisms are associated with multiple sclerosis in Mexican adults. Bermúdez-Morales VH et al. 2017 Journal of neuroimmunology
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
28426778 ApaI polymorphism of vitamin D receptor affects health-related quality of life in patients with primary sclerosing cholangitis. Kempinska-Podhorodecka A et al. 2017 PloS one
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
28527290 Association of polymorphic variants of PTPN22, TNF and VDR genes in children with lupus nephritis: A study in Colombian family triads. Garavito G et al. 2017 Biomedica
28533426 A reappraised meta-analysis of the genetic association between vitamin D receptor <i>Bsm</i>I (rs1544410) polymorphism and pulmonary tuberculosis risk. Areeshi MY et al. 2017 Bioscience reports
28590769 Associations of Genetic Polymorphisms Relevant to Metabolic Pathway of Vitamin D3 with Development and Prognosis of Childhood Bronchial Asthma. Zhang Y et al. 2017 DNA and cell biology
28607807 Immunohistochemical evaluation of vitamin D receptor (VDR) expression in cutaneous melanoma tissues and four VDR gene polymorphisms. La Marra F et al. 2017 Cancer biology & medicine
28617856 The associations between VDR BsmI polymorphisms and risk of vitamin D deficiency, obesity and insulin resistance in adolescents residing in a tropical country. Rahmadhani R et al. 2017 PloS one
28780723 Vitamin D Receptor Gene Polymorphism: Association with Susceptibility to Early-Onset Breast Cancer in Iranian, BRCA1/2-Mutation Carrier and non-carrier Patients. Shahabi A et al. 2018 Pathology oncology research
28822353 VDR Gene variation and insulin resistance related diseases. Han FF et al. 2017 Lipids in health and disease
28851298 Vitamin D receptor gene polymorphisms in association with diabetic nephropathy: a systematic review and meta-analysis. Yang L et al. 2017 BMC medical genetics
28868946 Vitamin D receptor gene polymorphisms and risk of polycystic ovary syndrome in South Indian women. Siddamalla S et al. 2018 Gynecological endocrinology
28884047 BsmI (rs1544410) and FokI (rs2228570) vitamin D receptor polymorphisms, smoking, and body mass index as risk factors of cutaneous malignant melanoma in northeast Italy. Cauci S et al. 2017 Cancer biology & medicine
29022486 Association of vitamin D receptor gene polymorphisms with breast cancer risk in an Egyptian population. El-Shorbagy HM et al. 2017 Tumour biology
29100280 Impact of phosphoinositide-3-kinase and vitamin D3 nuclear receptor single-nucleotide polymorphisms on the outcome of malignant melanoma patients. Morgese F et al. 2017 Oncotarget
29165650 Evaluation of 1,25-dihydroxyvitamin D3 pathway in patients with chronic urticaria. Nasiri-Kalmarzi R et al. 2018 QJM
29220424 Genetically deprived vitamin D exposure predisposes to atrial fibrillation. Chan YH et al. 2017 Europace
29343214 Establishing a genetic link between FTO and VDR gene polymorphisms and obesity in the Emirati population. Khan SM et al. 2018 BMC medical genetics
29409002 PTPN22 and CTLA-4 Polymorphisms Are Associated With Polyglandular Autoimmunity. Houcken J et al. 2018 The Journal of clinical endocrinology and metabolism
29456680 Correlation of vitamin D receptor with bronchial asthma in children. Hou C et al. 2018 Experimental and therapeutic medicine
29465575 Impact of vitamin D receptor and binding protein gene polymorphisms in clinical and laboratory data of HCV patients: Cross sectional study. Scalioni LP et al. 2018 Medicine
29480871 Association of vitamin D receptor BsmI rs1544410 and ApaI rs7975232 polymorphisms with susceptibility to adolescent idiopathic scoliosis: A systematic review and meta-analysis. Yin X et al. 2018 Medicine
29506625 VDBP, VDR Mutations and Other Factors Related With Vitamin D Metabolism May Be Associated With Type 1 Diabetes Mellitus. Kirac D et al. 2018 Cellular and molecular biology (Noisy-le-Grand, France)
29581796 Polymorphisms in Vitamin D Receptor Genes in Association with Childhood Autism Spectrum Disorder. Zhang Z et al. 2018 Disease markers
29594051 Vitamin D in Graves Disease: Levels, Correlation with Laboratory and Clinical Parameters, and Genetics. Planck T et al. 2018 European thyroid journal
29622662 Potential genetic polymorphisms predicting polycystic ovary syndrome. Chen Y et al. 2018 Endocrine connections
29669566 Apa-I polymorphism in VDR gene is related to metabolic syndrome in polycystic ovary syndrome: a cross-sectional study. Santos BR et al. 2018 Reproductive biology and endocrinology
29738868 BSMI single nucleotide polymorphism in vitamin D receptor gene is associated with decreased circulatory levels of serum 25-hydroxyvitamin D among micro and macrovascular complications of type 2 diabetes mellitus. Ezhilarasi K et al. 2018 International journal of biological macromolecules
29765404 Meta-Analysis of the Association between Vitamin D Receptor Polymorphisms and the Risk of Autoimmune Thyroid Disease. Gao XR et al. 2018 International journal of endocrinology
29794776 Effects of genetic variants on serum parathyroid hormone in hyperparathyroidism and end-stage renal disease patients: A systematic review and meta-analysis. Matana A et al. 2018 Medicine
29795187 Vitamin D Metabolism-Related Gene Haplotypes and Their Association with Metabolic Disturbances Among African-American Urban Adults. Beydoun MA et al. 2018 Scientific reports
29805854 Vitamin D Receptor Gene Polymorphisms and Breast Cancer Risk in Kazakhstan. Akilzhanova A et al. 2013 Central Asian journal of global health
29805861 Vitamin D Receptor Gene Polymorphisms in Susceptibility to Tuberculosis in the Kazakh Population in Almaty and Almaty Area. Zhabagin M et al. 2013 Central Asian journal of global health
29911037 Prevalence Pattern of Key Polymorphisms in the Vitamin D Receptor gene among Patients of Type 2 Diabetes Mellitus in Northeast India. Sarma D et al. 2018 Indian journal of endocrinology and metabolism
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
29926136 Association between vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in a Chinese Bai population. Li K et al. 2019 Urolithiasis
29970659 Relationship between Vitamin D receptor gene polymorphism and renal cell carcinoma susceptibility. Lin ZJ et al. 2018 Journal of cancer research and therapeutics
30059753 Association of IL18 genetic polymorphisms with increased risk of Biliary atresia susceptibility in Southern Chinese children. Liang J et al. 2018 Gene
30122987 Lack of association between the risk of prostate cancer and vitamin D receptor <i>Bsm I</i> polymorphism: a meta-analysis of 27 published studies. Kang S et al. 2018 Cancer management and research
30142216 Vitamin D levels, brain volume, and genetic architecture in patients with psychosis. Berg AO et al. 2018 PloS one
30166978 Relationship Between Vitamin D Status and Vitamin D Receptor Gene Polymorphisms With Markers of Metabolic Syndrome Among Adults. Karonova T et al. 2018 Frontiers in endocrinology
30233789 <i>VDR</i> and <i>TNFSF11</i> polymorphisms are associated with osteoporosis in Thai patients. Techapatiphandee M et al. 2018 Biomedical reports
30309792 Association of SNP-SNP Interactions Between RANKL, OPG, CHI3L1, and VDR Genes With Breast Cancer Risk in Egyptian Women. Shaker OG et al. 2019 Clinical breast cancer
30334420 Vitamin D receptor gene polymorphisms and prostate cancer. Braczkowski RS et al. 2018 Journal of biological regulators and homeostatic agents
30466214 No Association between Polymorphisms of Vitamin D and Oxytocin Receptor Genes and Autistic Spectrum Disorder in a Sample of Turkish Children. Bozdogan ST et al. 2018 Clinical psychopharmacology and neuroscience
30486759 VDR gene FokI polymorphism as a poor prognostic factor for papillary thyroid cancer. Beysel S et al. 2018 Tumour biology
30657057 Vitamin D receptor gene polymorphisms and susceptibility for primary osteoarthritis of the knee in a Latin American population. González-Huerta NC et al. 2018 Advances in rheumatology (London, England)
30683615 Association of vitamin D levels and vitamin D-related gene polymorphisms with liver fibrosis in patients with biopsy-proven nonalcoholic fatty liver disease. Arai T et al. 2019 Digestive and liver disease
30686249 The Association of Vitamin D Receptor Gene Polymorphism with Lung Cancer Risk: An Update Meta-analysis. Yu ZH et al. 2018 Combinatorial chemistry & high throughput screening
30687119 Association Between Vitamin D Receptor Gene Polymorphisms and Polycystic Ovary Syndrome Risk: A Meta-Analysis. Niu YM et al. 2018 Frontiers in physiology
30695589 [Analysis of the association of polymorphic variants of SYP1A2, GSTT1,GSTM1, GSTP1, XRCC1, XRCC3, AR and VDR genes with predisposition to the development of prostate cancer]. Kanaeva MD et al. 2016 Voprosy onkologii
30730049 The role of vitamin D receptor gene polymorphisms in the pathogenesis of Behçet's disease: A case-control study in Turkish population. Dal NE et al. 2019 Annals of human genetics
30763651 Vitamin D receptor polymorphisms and the susceptibility of Parkinson's disease. Wang X et al. 2019 Neuroscience letters
30764792 Association of vitamin D receptor gene variants with polycystic ovary syndrome: a meta-analysis. Shi XY et al. 2019 BMC medical genetics
30782293 Different VDR, VDBP genotypes and vitamin D levels may effect obstructive sleep apnea syndrome. Kirac D et al. 2019 Cellular and molecular biology (Noisy-le-Grand, France)
30797287 Association between vitamin D receptor gene polymorphisms and pulmonary tuberculosis in a Mexican population. Silva-Ramírez B et al. 2019 The Indian journal of tuberculosis
30822458 A meta-analysis on associations between vitamin D receptor genetic variants and tuberculosis. Wang Y et al. 2019 Microbial pathogenesis
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
30845908 Relationship of four vitamin D receptor gene polymorphisms with type 1 diabetes mellitus susceptibility in Kuwaiti children. Rasoul MA et al. 2019 BMC pediatrics
30895076 Association of vitamin D receptor gene polymorphisms and periodontitis in a Taiwanese Han population. Ho YP et al. 2017 Journal of dental sciences
30977086 Strong association between VDR FokI (rs2228570) gene variant and serum vitamin D levels in Turkish Cypriots. Tuncel G et al. 2019 Molecular biology reports
30987490 Associations between vitamin D receptor genetic variants and tuberculosis: a meta-analysis. Xu X et al. 2019 Innate immunity
31006279 The possible role of maternal and placental vitamin D receptor polymorphisms and haplotypes in pathogenesis of preeclampsia. Farajian-Mashhadi F et al. 2019 Clinical and experimental hypertension (New York, N.Y.
31011579 Vitamin D Receptor Gene Polymorphism: An Important Predictor of Arthritis Development. Mukhtar M et al. 2019 BioMed research international
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
31114636 Maternal genetic contribution to pre-pregnancy obesity, gestational weight gain, and gestational diabetes mellitus. Beysel S et al. 2019 Diabetology & metabolic syndrome
31121922 Lower Vitamin D Levels, but Not VDR Polymorphisms, Influence Type 2 Diabetes Mellitus in Brazilian Population Independently of Obesity. Rodrigues KF et al. 2019 Medicina (Kaunas, Lithuania)
31190930 Vitamin D receptor rs7975232, rs731236 and rs1544410 single nucleotide polymorphisms, and 25-hydroxyvitamin D levels in Egyptian children with type 1 diabetes mellitus: effect of vitamin D co-therapy. Ahmed AE et al. 2019 Diabetes, metabolic syndrome and obesity
31212049 Association of vitamin D receptor polymorphisms and nephrolithiasis: A meta-analysis. González-Castro TB et al. 2019 Gene

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).
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