Skip to main page content

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
chr4:71752606 (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.

G>A / G>T
Variation Type
SNV Single Nucleotide Variation
T=0.22565 (28334/125568, TOPMED)
T=0.1860 (14639/78698, PAGE_STUDY)
T=0.208 (1041/5008, 1000G) (+ 5 more)
T=0.304 (1360/4480, Estonian)
T=0.288 (1110/3854, ALSPAC)
T=0.292 (1082/3708, TWINSUK)
T=0.22 (135/614, Vietnamese)
T=0.24 (145/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
GC : Missense Variant
136 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 4 NC_000004.12:g.71752606G>A
GRCh38.p12 chr 4 NC_000004.12:g.71752606G>T
GRCh37.p13 chr 4 NC_000004.11:g.72618323G>A
GRCh37.p13 chr 4 NC_000004.11:g.72618323G>T
GC RefSeqGene NG_012837.3:g.57915C>T
GC RefSeqGene NG_012837.3:g.57915C>A
GC RefSeqGene NG_012837.2:g.57915C>T
GC RefSeqGene NG_012837.2:g.57915C>A
Gene: GC, GC vitamin D binding protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GC transcript variant 2 NM_001204306.1:c.1307C>T T [ACG] > M [ATG] Coding Sequence Variant
vitamin D-binding protein isoform 1 precursor NP_001191235.1:p.Thr436Met T (Thr) > M (Met) Missense Variant
GC transcript variant 2 NM_001204306.1:c.1307C>A T [ACG] > K [AAG] Coding Sequence Variant
vitamin D-binding protein isoform 1 precursor NP_001191235.1:p.Thr436Lys T (Thr) > K (Lys) Missense Variant
GC transcript variant 3 NM_001204307.1:c.1364C>T T [ACG] > M [ATG] Coding Sequence Variant
vitamin D-binding protein isoform 3 precursor NP_001191236.1:p.Thr455Met T (Thr) > M (Met) Missense Variant
GC transcript variant 3 NM_001204307.1:c.1364C>A T [ACG] > K [AAG] Coding Sequence Variant
vitamin D-binding protein isoform 3 precursor NP_001191236.1:p.Thr455Lys T (Thr) > K (Lys) Missense Variant
GC transcript variant 1 NM_000583.4:c.1307C>T T [ACG] > M [ATG] Coding Sequence Variant
vitamin D-binding protein isoform 1 precursor NP_000574.2:p.Thr436Met T (Thr) > M (Met) Missense Variant
GC transcript variant 1 NM_000583.4:c.1307C>A T [ACG] > K [AAG] Coding Sequence Variant
vitamin D-binding protein isoform 1 precursor NP_000574.2:p.Thr436Lys T (Thr) > K (Lys) Missense Variant
GC transcript variant X1 XM_006714177.3:c. N/A Intron Variant

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.

Allele: T (allele ID: 31025 )
ClinVar Accession Disease Names Clinical Significance
RCV000017356.3 GC1/GC2 POLYMORPHISM Benign

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 G=0.77435 T=0.22565
The PAGE Study Global Study-wide 78698 G=0.8140 T=0.1860
The PAGE Study AfricanAmerican Sub 32514 G=0.8854 T=0.1146
The PAGE Study Mexican Sub 10810 G=0.7768 T=0.2232
The PAGE Study Asian Sub 8318 G=0.733 T=0.267
The PAGE Study PuertoRican Sub 7918 G=0.774 T=0.226
The PAGE Study NativeHawaiian Sub 4534 G=0.720 T=0.280
The PAGE Study Cuban Sub 4228 G=0.759 T=0.241
The PAGE Study Dominican Sub 3828 G=0.811 T=0.189
The PAGE Study CentralAmerican Sub 2450 G=0.788 T=0.212
The PAGE Study SouthAmerican Sub 1982 G=0.788 T=0.212
The PAGE Study NativeAmerican Sub 1260 G=0.770 T=0.230
The PAGE Study SouthAsian Sub 856 G=0.71 T=0.29
1000Genomes Global Study-wide 5008 G=0.792 T=0.208
1000Genomes African Sub 1322 G=0.933 T=0.067
1000Genomes East Asian Sub 1008 G=0.739 T=0.261
1000Genomes Europe Sub 1006 G=0.752 T=0.248
1000Genomes South Asian Sub 978 G=0.70 T=0.30
1000Genomes American Sub 694 G=0.79 T=0.21
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.696 T=0.304
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.712 T=0.288
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.708 T=0.292
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.78 T=0.22
Northern Sweden ACPOP Study-wide 600 G=0.76 T=0.24

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 G= A T Note
GRCh38.p12 chr 4 NC_000004.12:g.71...






GRCh37.p13 chr 4 NC_000004.11:g.72...






GC RefSeqGene NG_012837.3:g.57915= NG_012837.3:g.579...




GC RefSeqGene NG_012837.2:g.57915= NG_012837.2:g.579...




GC transcript variant 1 NM_000583.4:c.1307= NM_000583.4:c.130...




GC transcript variant 1 NM_000583.3:c.1307= NM_000583.3:c.130...




GC transcript variant 2 NM_001204306.1:c....






GC transcript variant 3 NM_001204307.1:c....






vitamin D-binding protein isoform 1 precursor NP_000574.2:p.Thr...






vitamin D-binding protein isoform 1 precursor NP_001191235.1:p....






vitamin D-binding protein isoform 3 precursor NP_001191236.1:p....







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#.

111 SubSNP, 14 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4923551 Aug 28, 2002 (110)
2 SNP500CANCER ss6903803 Jul 02, 2003 (116)
3 APPLERA_GI ss48413055 Mar 14, 2006 (126)
4 PERLEGEN ss68901842 May 16, 2007 (127)
5 ILLUMINA ss74869789 Dec 06, 2007 (129)
6 SI_EXO ss76896795 Dec 06, 2007 (129)
7 BCMHGSC_JDW ss92638048 Mar 24, 2008 (129)
8 1000GENOMES ss108035702 Jan 22, 2009 (130)
9 KRIBB_YJKIM ss119337423 Dec 01, 2009 (131)
10 ENSEMBL ss139688179 Dec 01, 2009 (131)
11 SEATTLESEQ ss159707786 Dec 01, 2009 (131)
12 ILLUMINA ss160689573 Dec 01, 2009 (131)
13 ILLUMINA ss173757448 Jul 04, 2010 (132)
14 BCM-HGSC-SUB ss206300336 Jul 04, 2010 (132)
15 1000GENOMES ss220991365 Jul 14, 2010 (132)
16 1000GENOMES ss232440814 Jul 14, 2010 (132)
17 1000GENOMES ss239723909 Jul 15, 2010 (132)
18 ILLUMINA ss244300194 Jul 04, 2010 (132)
19 BL ss253235064 May 09, 2011 (134)
20 GMI ss277771311 May 04, 2012 (137)
21 GMI ss284932027 Apr 25, 2013 (138)
22 OMIM-CURATED-RECORDS ss295469803 Jan 27, 2011 (133)
23 NHLBI-ESP ss342165189 May 09, 2011 (134)
24 PAGE_STUDY ss469996436 May 04, 2012 (137)
25 ILLUMINA ss480975548 May 04, 2012 (137)
26 ILLUMINA ss480995944 May 04, 2012 (137)
27 ILLUMINA ss481972395 Sep 08, 2015 (146)
28 ILLUMINA ss485282678 May 04, 2012 (137)
29 1000GENOMES ss490889030 May 04, 2012 (137)
30 EXOME_CHIP ss491356817 May 04, 2012 (137)
31 CLINSEQ_SNP ss491855427 May 04, 2012 (137)
32 ILLUMINA ss537247880 Sep 08, 2015 (146)
33 TISHKOFF ss557591332 Apr 25, 2013 (138)
34 SSMP ss651401282 Apr 25, 2013 (138)
35 ILLUMINA ss778911497 Sep 08, 2015 (146)
36 ILLUMINA ss780829510 Sep 08, 2015 (146)
37 ILLUMINA ss783087259 Sep 08, 2015 (146)
38 ILLUMINA ss783512395 Sep 08, 2015 (146)
39 ILLUMINA ss784044755 Sep 08, 2015 (146)
40 ILLUMINA ss832345685 Sep 08, 2015 (146)
41 ILLUMINA ss834372849 Sep 08, 2015 (146)
42 EVA-GONL ss980240883 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1067461898 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1071633825 Aug 21, 2014 (142)
45 1000GENOMES ss1310214181 Aug 21, 2014 (142)
46 HAMMER_LAB ss1397378633 Sep 08, 2015 (146)
47 EVA_GENOME_DK ss1580608733 Apr 01, 2015 (144)
48 EVA_FINRISK ss1584034693 Apr 01, 2015 (144)
49 EVA_DECODE ss1589740279 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1610325203 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1653319236 Apr 01, 2015 (144)
52 EVA_EXAC ss1687524648 Apr 01, 2015 (144)
53 EVA_EXAC ss1687524649 Apr 01, 2015 (144)
54 EVA_MGP ss1711062636 Apr 01, 2015 (144)
55 EVA_SVP ss1712680170 Apr 01, 2015 (144)
56 ILLUMINA ss1752530639 Sep 08, 2015 (146)
57 ILLUMINA ss1752530640 Sep 08, 2015 (146)
58 ILLUMINA ss1917781327 Feb 12, 2016 (147)
59 WEILL_CORNELL_DGM ss1923483772 Feb 12, 2016 (147)
60 ILLUMINA ss1946118563 Feb 12, 2016 (147)
61 ILLUMINA ss1958692377 Feb 12, 2016 (147)
62 JJLAB ss2022328107 Sep 14, 2016 (149)
63 USC_VALOUEV ss2150455669 Dec 20, 2016 (150)
64 HUMAN_LONGEVITY ss2263812155 Dec 20, 2016 (150)
65 TOPMED ss2431600465 Dec 20, 2016 (150)
66 SYSTEMSBIOZJU ss2625663254 Nov 08, 2017 (151)
67 ILLUMINA ss2634132854 Nov 08, 2017 (151)
68 GRF ss2705928265 Nov 08, 2017 (151)
69 ILLUMINA ss2711007318 Nov 08, 2017 (151)
70 GNOMAD ss2734557734 Nov 08, 2017 (151)
71 GNOMAD ss2747251983 Nov 08, 2017 (151)
72 GNOMAD ss2810653961 Nov 08, 2017 (151)
73 AFFY ss2985294664 Nov 08, 2017 (151)
74 SWEGEN ss2994896383 Nov 08, 2017 (151)
75 ILLUMINA ss3022383060 Nov 08, 2017 (151)
76 EVA_SAMSUNG_MC ss3023060664 Nov 08, 2017 (151)
77 BIOINF_KMB_FNS_UNIBA ss3024938002 Nov 08, 2017 (151)
78 CSHL ss3345773130 Nov 08, 2017 (151)
79 TOPMED ss3432180289 Nov 08, 2017 (151)
80 ILLUMINA ss3628987509 Oct 12, 2018 (152)
81 ILLUMINA ss3628987510 Oct 12, 2018 (152)
82 ILLUMINA ss3632068419 Oct 12, 2018 (152)
83 ILLUMINA ss3633337950 Oct 12, 2018 (152)
84 ILLUMINA ss3634057044 Oct 12, 2018 (152)
85 ILLUMINA ss3634956085 Oct 12, 2018 (152)
86 ILLUMINA ss3634956086 Oct 12, 2018 (152)
87 ILLUMINA ss3635739899 Oct 12, 2018 (152)
88 ILLUMINA ss3636659747 Oct 12, 2018 (152)
89 ILLUMINA ss3637492419 Oct 12, 2018 (152)
90 ILLUMINA ss3638491928 Oct 12, 2018 (152)
91 ILLUMINA ss3640663381 Oct 12, 2018 (152)
92 ILLUMINA ss3640663382 Oct 12, 2018 (152)
93 ILLUMINA ss3644851340 Oct 12, 2018 (152)
94 OMUKHERJEE_ADBS ss3646308773 Oct 12, 2018 (152)
95 ILLUMINA ss3652868104 Oct 12, 2018 (152)
96 ILLUMINA ss3654065975 Oct 12, 2018 (152)
97 EGCUT_WGS ss3662778327 Jul 13, 2019 (153)
98 EVA_DECODE ss3712281371 Jul 13, 2019 (153)
99 ILLUMINA ss3726141592 Jul 13, 2019 (153)
100 ACPOP ss3731255551 Jul 13, 2019 (153)
101 ILLUMINA ss3744525730 Jul 13, 2019 (153)
102 ILLUMINA ss3745256360 Jul 13, 2019 (153)
103 ILLUMINA ss3745256361 Jul 13, 2019 (153)
104 EVA ss3761941530 Jul 13, 2019 (153)
105 PAGE_CC ss3771131075 Jul 13, 2019 (153)
106 ILLUMINA ss3772750968 Jul 13, 2019 (153)
107 ILLUMINA ss3772750969 Jul 13, 2019 (153)
108 PACBIO ss3784750279 Jul 13, 2019 (153)
109 PACBIO ss3790203291 Jul 13, 2019 (153)
110 PACBIO ss3795078599 Jul 13, 2019 (153)
111 KHV_HUMAN_GENOMES ss3805082287 Jul 13, 2019 (153)
112 1000Genomes NC_000004.11 - 72618323 Oct 12, 2018 (152)
113 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 72618323 Oct 12, 2018 (152)
114 Genetic variation in the Estonian population NC_000004.11 - 72618323 Oct 12, 2018 (152)
115 ExAC

Submission ignored due to conflicting rows:
Row 7491404 (NC_000004.11:72618322:G:G 90674/121344, NC_000004.11:72618322:G:T 30670/121344)
Row 7491405 (NC_000004.11:72618322:G:G 121343/121344, NC_000004.11:72618322:G:A 1/121344)

- Oct 12, 2018 (152)
116 ExAC

Submission ignored due to conflicting rows:
Row 7491404 (NC_000004.11:72618322:G:G 90674/121344, NC_000004.11:72618322:G:T 30670/121344)
Row 7491405 (NC_000004.11:72618322:G:G 121343/121344, NC_000004.11:72618322:G:A 1/121344)

- Oct 12, 2018 (152)
117 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 59075521 (NC_000004.11:72618322:G:G 31353/31354, NC_000004.11:72618322:G:A 1/31354)
Row 59075522 (NC_000004.11:72618322:G:G 24303/31354, NC_000004.11:72618322:G:T 7051/31354)

- Jul 13, 2019 (153)
118 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 59075521 (NC_000004.11:72618322:G:G 31353/31354, NC_000004.11:72618322:G:A 1/31354)
Row 59075522 (NC_000004.11:72618322:G:G 24303/31354, NC_000004.11:72618322:G:T 7051/31354)

- Jul 13, 2019 (153)
119 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 3662179 (NC_000004.11:72618322:G:G 251210/251214, NC_000004.11:72618322:G:A 4/251214)
Row 3662180 (NC_000004.11:72618322:G:G 187635/251214, NC_000004.11:72618322:G:T 63579/251214)

- Jul 13, 2019 (153)
120 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 3662179 (NC_000004.11:72618322:G:G 251210/251214, NC_000004.11:72618322:G:A 4/251214)
Row 3662180 (NC_000004.11:72618322:G:G 187635/251214, NC_000004.11:72618322:G:T 63579/251214)

- Jul 13, 2019 (153)
121 Northern Sweden NC_000004.11 - 72618323 Jul 13, 2019 (153)
122 The PAGE Study NC_000004.12 - 71752606 Jul 13, 2019 (153)
123 TopMed NC_000004.12 - 71752606 Oct 12, 2018 (152)
124 UK 10K study - Twins NC_000004.11 - 72618323 Oct 12, 2018 (152)
125 A Vietnamese Genetic Variation Database NC_000004.11 - 72618323 Jul 13, 2019 (153)
126 ClinVar RCV000017356.3 Oct 12, 2018 (152)

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)
rs1047220 Jan 04, 2002 (102)
rs3172681 Dec 16, 2002 (110)
rs3737552 Oct 09, 2002 (108)
rs4987170 Apr 07, 2003 (113)
rs16846941 Oct 07, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1687524649, ss2734557734, ss2747251983, ss2810653961 NC_000004.11:72618322:G:A NC_000004.12:71752605:G:A (self)
ss92638048, ss108035702, ss206300336, ss253235064, ss277771311, ss284932027, ss480975548, ss491855427, ss1397378633, ss1589740279, ss1712680170 NC_000004.10:72837186:G:T NC_000004.12:71752605:G:T (self)
21626578, 12021307, 8516575, 4540416, 12021307, 2647631, ss220991365, ss232440814, ss239723909, ss342165189, ss480995944, ss481972395, ss485282678, ss490889030, ss491356817, ss537247880, ss557591332, ss651401282, ss778911497, ss780829510, ss783087259, ss783512395, ss784044755, ss832345685, ss834372849, ss980240883, ss1067461898, ss1071633825, ss1310214181, ss1580608733, ss1584034693, ss1610325203, ss1653319236, ss1687524648, ss1711062636, ss1752530639, ss1752530640, ss1917781327, ss1923483772, ss1946118563, ss1958692377, ss2022328107, ss2150455669, ss2431600465, ss2625663254, ss2634132854, ss2705928265, ss2711007318, ss2734557734, ss2747251983, ss2810653961, ss2985294664, ss2994896383, ss3022383060, ss3023060664, ss3345773130, ss3628987509, ss3628987510, ss3632068419, ss3633337950, ss3634057044, ss3634956085, ss3634956086, ss3635739899, ss3636659747, ss3637492419, ss3638491928, ss3640663381, ss3640663382, ss3644851340, ss3646308773, ss3652868104, ss3654065975, ss3662778327, ss3731255551, ss3744525730, ss3745256360, ss3745256361, ss3761941530, ss3772750968, ss3772750969, ss3784750279, ss3790203291, ss3795078599 NC_000004.11:72618322:G:T NC_000004.12:71752605:G:T (self)
RCV000017356.3, 352544, 284582369, ss295469803, ss2263812155, ss3024938002, ss3432180289, ss3712281371, ss3726141592, ss3771131075, ss3805082287 NC_000004.12:71752605:G:T NC_000004.12:71752605:G:T (self)
ss76896795 NT_006216.14:1125332:G:T NC_000004.12:71752605:G:T (self)
ss4923551, ss6903803, ss48413055, ss68901842, ss74869789, ss119337423, ss139688179, ss159707786, ss160689573, ss173757448, ss244300194, ss469996436 NT_022778.16:12828989:G:T NC_000004.12:71752605:G:T (self)

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

136 citations for rs4588
PMID Title Author Year Journal
1352271 Molecular analysis of the gene for the human vitamin-D-binding protein (group-specific component): allelic differences of the common genetic GC types. Braun A et al. 1992 Human 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
15817713 Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. Hersh CP et al. 2005 American journal of respiratory cell and molecular biology
17054776 The genetics of chronic obstructive pulmonary disease. Wood AM et al. 2006 Respiratory research
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
18559548 The Gc2 allele of the vitamin D binding protein is associated with a decreased postmenopausal breast cancer risk, independent of the vitamin D status. Abbas S et al. 2008 Cancer epidemiology, biomarkers & prevention
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
19116321 Genetic polymorphisms of the vitamin D binding protein and plasma concentrations of 25-hydroxyvitamin D in premenopausal women. Sinotte M et al. 2009 The American journal of clinical nutrition
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
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
19488670 Vitamin D binding protein genotype and osteoporosis. Fang Y et al. 2009 Calcified tissue international
19559392 A candidate gene association study of 77 polymorphisms in migraine. Schürks M et al. 2009 The journal of pain
19951401 Chronic obstructive pulmonary disease: towards pharmacogenetics. Wood AM et al. 2009 Genome medicine
19996341 Vitamin D deficiency is highly prevalent in COPD and correlates with variants in the vitamin D-binding gene. Janssens W et al. 2010 Thorax
20007432 Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis. Simon KC et al. 2010 Multiple sclerosis (Houndmills, Basingstoke, England)
20031567 An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study. Zee RY et al. 2009 Circulation. Cardiovascular genetics
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
20363324 A systematic review of the association between common single nucleotide polymorphisms and 25-hydroxyvitamin D concentrations. McGrath JJ et al. 2010 The Journal of steroid biochemistry and molecular biology
20541252 Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Wang TJ et al. 2010 Lancet (London, England)
20812960 Vitamin D-binding protein polymorphisms are not associated with development of (multiple) basal cell carcinomas. Flohil SC et al. 2010 Experimental dermatology
21357399 Vitamin D receptor (VDR) and group-specific component (GC, vitamin D-binding protein) polymorphisms in myopia. Mutti DO et al. 2011 Investigative ophthalmology & visual science
21430387 Nutrigenomics, vitamin D and cancer prevention. Davis CD et al. 2011 Journal of nutrigenetics and nutrigenomics
21441443 Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes. Cooper JD et al. 2011 Diabetes
21810276 Vitamin D binding protein variants associate with asthma susceptibility in the Chinese Han population. Li F et al. 2011 BMC medical genetics
21844098 Reduced serum vitamin D-binding protein levels are associated with type 1 diabetes. Blanton D et al. 2011 Diabetes
21972121 Associations between common variants in GC and DHCR7/NADSYN1 and vitamin D concentration in Chinese Hans. Lu L et al. 2012 Human genetics
22022476 Common genetic variants are associated with accelerated bone mineral density loss after hematopoietic cell transplantation. Yao S et al. 2011 PloS one
22129377 Nutrigenomics and personalized diets: What will they mean for food? German JB et al. 2011 Annual review of food science and technology
22144504 Polymorphic variation in the GC and CASR genes and associations with vitamin D metabolite concentration and metachronous colorectal neoplasia. Hibler EA et al. 2012 Cancer epidemiology, biomarkers & prevention
22205958 Common variation in vitamin D pathway genes predicts circulating 25-hydroxyvitamin D Levels among African Americans. Signorello LB et al. 2011 PloS one
22213340 25-hydroxyvitamin D, vitamin D receptor gene polymorphisms, and severity of Parkinson's disease. Suzuki M et al. 2012 Movement disorders
22583563 Genetic and environmental predictors of serum 25-hydroxyvitamin D concentrations among middle-aged and elderly Chinese in Singapore. Robien K et al. 2013 The British journal of nutrition
22610885 Vitamin D binding protein gene polymorphisms and baseline vitamin D levels as predictors of antiviral response in chronic hepatitis C. Falleti E et al. 2012 Hepatology (Baltimore, Md.)
22629401 Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D. Berry DJ et al. 2012 PloS one
22769019 Association of inflammatory gene polymorphisms with ischemic stroke in a Chinese Han population. Zhao N et al. 2012 Journal of neuroinflammation
23070913 Association of vitamin D binding protein polymorphism with long-term kidney allograft survival in Hispanic kidney transplant recipients. Vu D et al. 2013 Molecular biology reports
23169318 Genetic sequence variants in vitamin D metabolism pathway genes, serum vitamin D level and outcome in head and neck cancer patients. Azad AK et al. 2013 International journal of cancer
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
23191998 Genetic variations in the vitamin D binding protein and season-specific levels of vitamin D among older adults. Perna L et al. 2013 Epidemiology (Cambridge, Mass.)
23427793 Common variants of the vitamin D binding protein gene and adverse health outcomes. Malik S et al. 2013 Critical reviews in clinical laboratory sciences
23456391 Serum vitamin D metabolites in colorectal cancer patients receiving cholecalciferol supplementation: correlation with polymorphisms in the vitamin D genes. Muindi JR et al. 2013 Hormones & cancer
23505139 An analysis of the association between the vitamin D pathway and serum 25-hydroxyvitamin D levels in a healthy Chinese population. Zhang Z et al. 2013 Journal of bone and mineral research
24200978 Serum 25(OH)D and vitamin D status in relation to VDR, GC and CYP2R1 variants in Chinese. Li LH et al. 2014 Endocrine journal
24447085 Vitamin D-binding protein haplotype is associated with hospitalization for RSV bronchiolitis. Randolph AG et al. 2014 Clinical and experimental allergy
24472850 Associations between vitamin D-binding protein isotypes, circulating 25(OH)D levels, and vitamin D metabolite uptake in colon cancer cells. Hibler EA et al. 2014 Cancer prevention research (Philadelphia, Pa.)
24516573 Vitamin D levels vary during antiviral treatment but are unable to predict treatment outcome in HCV genotype 1 infected patients. Grammatikos G et al. 2014 PloS one
24735339 Association of group component genetic variations in COPD and COPD exacerbation in a Japanese population. Ishii T et al. 2014 Respirology (Carlton, Vic.)
24768180 Vitamin-D pathway genes and HIV-1 disease progression in injection drug users. Laplana M et al. 2014 Gene
24868205 Vitamin D Binding Protein Impact on 25-Hydroxyvitamin D Levels under Different Physiologic and Pathologic Conditions. Yousefzadeh P et al. 2014 International journal of endocrinology
24934498 Real-life use of vitamin D3-fortified bread and milk during a winter season: the effects of CYP2R1 and GC genes on 25-hydroxyvitamin D concentrations in Danish families, the VitmaD study. Nissen J et al. 2014 Genes & nutrition
25046415 The functional polymorphisms of VDR, GC and CYP2R1 are involved in the pathogenesis of autoimmune thyroid diseases. Inoue N et al. 2014 Clinical and experimental immunology
25211176 Determinants of vitamin D status in Caucasian adults: influence of sun exposure, dietary intake, sociodemographic, lifestyle, anthropometric, and genetic factors. Touvier M et al. 2015 The Journal of investigative dermatology
25234352 Genetic and environmental influences on plasma vitamin D binding protein concentrations. Wilson RT et al. 2015 Translational research
25281353 Association between circulating 25-hydroxyvitamin D and incident type 2 diabetes: a mendelian randomisation study. Ye Z et al. 2015 The lancet. Diabetes & endocrinology
25488826 Associations of vitamin D pathway genes with circulating 25-hydroxyvitamin-D, 1,25-dihydroxyvitamin-D, and prostate cancer: a nested case-control study. Gilbert R et al. 2015 Cancer causes & control
25527766 Common variants in CYP2R1 and GC genes are both determinants of serum 25-hydroxyvitamin D concentrations after UVB irradiation and after consumption of vitamin D₃-fortified bread and milk during winter in Denmark. Nissen J et al. 2015 The American journal of clinical nutrition
25652210 Vitamin D binding protein genotype is associated with plasma 25OHD concentration in West African children. Braithwaite VS et al. 2015 Bone
25920689 The associations of 25-hydroxyvitamin D levels, vitamin D binding protein gene polymorphisms, and race with risk of incident fracture-related hospitalization: Twenty-year follow-up in a bi-ethnic cohort (the ARIC Study). Takiar R et al. 2015 Bone
25926504 Race, vitamin D-binding protein gene polymorphisms, 25-hydroxyvitamin D, and incident diabetes: the Atherosclerosis Risk in Communities (ARIC) Study. Reis JP et al. 2015 The American journal of clinical nutrition
25941991 25-hydroxyvitamin D levels, vitamin D binding protein gene polymorphisms and incident coronary heart disease among whites and blacks: The ARIC study. Michos ED et al. 2015 Atherosclerosis
25962507 Vitamin D, vitamin D binding protein gene polymorphisms, race and risk of incident stroke: the Atherosclerosis Risk in Communities (ARIC) study. Schneider AL et al. 2015 European journal of neurology
25993607 Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder. Genetics of Personality Consortium. et al. 2015 JAMA psychiatry
26067474 Association of vitamin D binding protein polymorphisms with bronchopulmonary dysplasia: a case-control study of gc globulin and bronchopulmonary dysplasia. Serce Pehlevan O et al. 2015 Journal of perinatology
26073892 Selected vitamin D metabolic gene variants and risk for autism spectrum disorder in the CHARGE Study. Schmidt RJ et al. 2015 Early human development
26193879 Genotype-independent association between profound vitamin D deficiency and delayed sputum smear conversion in pulmonary tuberculosis. Junaid K et al. 2015 BMC infectious diseases
26317560 Bioavailable Vitamin D in Obese Children: The Role of Insulin Resistance. Miraglia del Giudice E et al. 2015 The Journal of clinical endocrinology and metabolism
26356094 Critically Ill Children Have Low Vitamin D-Binding Protein, Influencing Bioavailability of Vitamin D. Madden K et al. 2015 Annals of the American Thoracic Society
26364161 Meta-analysis of vitamin D-binding protein and cancer risk. Tagliabue E et al. 2015 Cancer epidemiology, biomarkers & prevention
26380769 Vitamin D binding protein gene polymorphisms and chronic obstructive pulmonary disease: a meta-analysis. Chen H et al. 2015 Journal of thoracic disease
26383826 Association of rs7041 and rs4588 Polymorphisms of the Vitamin D Binding Protein and the rs10741657 Polymorphism of CYP2R1 with Vitamin D Status Among Jordanian Patients. Lafi ZM et al. 2015 Genetic testing and molecular biomarkers
26404398 Hypovitaminosis D in a Young Lebanese Population: Effect of GC Gene Polymorphisms on Vitamin D and Vitamin D Binding Protein Levels. Medlej-Hashim M et al. 2015 Annals of human genetics
26417870 Potential causal associations between vitamin D and uric acid: Bidirectional mediation analysis. Thakkinstian A et al. 2015 Scientific reports
26446360 Mendelian randomization studies of biomarkers and type 2 diabetes. Abbasi A et al. 2015 Endocrine connections
26458880 High prevalence of vitamin D deficiency among women of child-bearing age in Lahore Pakistan, associating with lack of sun exposure and illiteracy. Junaid K et al. 2015 BMC women's health
26497592 The rs1803274 polymorphism of the BCHE gene is associated with an increased risk of coronary in-stent restenosis. Pleva L et al. 2015 BMC cardiovascular disorders
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
26881316 Independent associations of polymorphisms in vitamin D binding protein (GC) and vitamin D receptor (VDR) genes with obesity and plasma 25OHD3 levels demonstrate sex dimorphism. Almesri N et al. 2016 Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme
26893716 Polymorphic variants in the vitamin D pathway genes and the risk of ovarian cancer among non-carriers of <i>BRCA1/BRCA2</i> mutations. Mostowska A et al. 2016 Oncology letters
26962819 GC Gene Polymorphism and Unbound Serum Retinol-Binding Protein 4 Are Related to the Risk of Insulin Resistance in Patients With Chronic Hepatitis C: A Prospective Cross-Sectional Study. Mateos-Muñoz B et al. 2016 Medicine
27116295 Serum Bioavailable Vitamin D Concentrations and Bone Mineral Density in Women After Obesity Surgery. Botella-Carretero JI et al. 2016 Obesity surgery
27154872 Vitamin D status in primary hyperparathyroidism: effect of genetic background. Battista C et al. 2017 Endocrine
27160686 Vitamin D deficiency associates with susceptibility to tuberculosis in Pakistan, but polymorphisms in VDR, DBP and CYP2R1 do not. Junaid K et al. 2016 BMC pulmonary medicine
27570856 Genetic influence on circulating vitamin D among Saudi Arabians. Sadat-Ali M et al. 2016 Saudi medical journal
27625044 Genetically Low Vitamin D Levels, Bone Mineral Density, and Bone Metabolism Markers: a Mendelian Randomisation Study. Li SS et al. 2016 Scientific reports
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
27736940 Vitamin D Receptor Gene Polymorphism and the Risk of Colorectal Cancer: A Nested Case-Control Study. Budhathoki S et al. 2016 PloS one
27768857 Effects of Genetic and Nongenetic Factors on Total and Bioavailable 25(OH)D Responses to Vitamin D Supplementation. Yao P et al. 2017 The Journal of clinical endocrinology and metabolism
27919752 Bioavailable 25(OH)D but Not Total 25(OH)D Is an Independent Determinant for Bone Mineral Density in Chinese Postmenopausal Women. Li C et al. 2017 EBioMedicine
28008453 Association of VDBP and CYP2R1 gene polymorphisms with vitamin D status in women with polycystic ovarian syndrome: a north Indian study. Haldar D et al. 2018 European journal of nutrition
28061456 Vitamin D receptor polymorphisms or serum levels as key drivers of breast cancer development? The question of the vitamin D pathway. Amadori D et al. 2017 Oncotarget
28079136 SNP rs11185644 of RXRA gene is identified for dose-response variability to vitamin D3 supplementation: a randomized clinical trial. Zhang M et al. 2017 Scientific reports
28278285 Genetic variant in vitamin D-binding protein is associated with metabolic syndrome and lower 25-hydroxyvitamin D levels in polycystic ovary syndrome: A cross-sectional study. Santos BR et al. 2017 PloS one
28284354 Vitamin D-binding protein gene polymorphisms are not associated with MS risk in an Italian cohort. Agliardi C et al. 2017 Journal of neuroimmunology
28296915 Genetic variation in the vitamin D pathway CYP2R1 gene predicts sustained HBeAg seroconversion in chronic hepatitis B patients treated with pegylated interferon: A multicenter study. Thanapirom K et al. 2017 PloS one
28382877 Common genetic variants are associated with lower serum 25-hydroxyvitamin D concentrations across the year among children at northern latitudes. Petersen RA et al. 2017 The British journal of nutrition
28415985 Vitamin D-related gene polymorphism predict treatment response to pegylated interferon-based therapy in Thai chronic hepatitis C patients. Thanapirom K et al. 2017 BMC gastroenterology
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
28779988 Impact of polymorphism rs7041 and rs4588 of Vitamin D Binding Protein on the extent of coronary artery disease. Daffara V et al. 2017 Nutrition, metabolism, and cardiovascular diseases
28809744 Effect of Vitamin D Serum Levels and GC Gene Polymorphisms in Liver Fibrosis Due to Chronic Hepatitis C. Azevedo LA et al. 2017 Annals of hepatology
28888576 Association of vitamin D and vitamin D binding protein (DBP) gene polymorphism with susceptibility of type 2 diabetes mellitus in Bangladesh. Rahman MM et al. 2017 Gene
28976930 Association of Sun Exposure, Skin Colour and Body Mass Index with Vitamin D Status in Individuals Who Are Morbidly Obese. Dix CF et al. 2017 Nutrients
29153269 Vitamin D pathway gene polymorphisms influenced vitamin D level among pregnant women. Shao B et al. 2018 Clinical nutrition (Edinburgh, Scotland)
29175129 Vitamin D metabolic loci and vitamin D status in Black and White pregnant women. Baca KM et al. 2018 European journal of obstetrics, gynecology, and reproductive biology
29208668 A Polymorphism within the Vitamin D Transporter Gene Predicts Outcome in Metastatic Colorectal Cancer Patients Treated with FOLFIRI/Bevacizumab or FOLFIRI/Cetuximab. Berger MD et al. 2018 Clinical cancer research
29220424 Genetically deprived vitamin D exposure predisposes to atrial fibrillation. Chan YH et al. 2017 Europace
29241119 Bench to bedside review: Possible role of vitamin D in autism spectrum disorder. Jia F et al. 2018 Psychiatry research
29291743 SNPs related to vitamin D and breast cancer risk: a case-control study. Huss L et al. 2018 Breast cancer research
29414925 Vitamin D-Binding Protein Polymorphisms, 25-Hydroxyvitamin D, Sunshine and Multiple Sclerosis. Langer-Gould A et al. 2018 Nutrients
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
29476721 C3-epimerization of 25-hydroxyvitamin D increases with increasing serum 25-hydroxyvitamin D levels and shows a high degree of tracking over time. Kubiak JM et al. 2018 Clinical biochemistry
29502202 Association Between Vitamin D Metabolism Gene Polymorphisms and Risk of Tunisian Adults' Asthma. Lahmar O et al. 2018 Lung
29504805 Vitamin D-binding protein and its polymorphisms as a predictor for metabolic syndrome. Karuwanarint P et al. 2018 Biomarkers in 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)
29545823 Genome-Wide Association Study of Serum 25-Hydroxyvitamin D in US Women. O'Brien KM et al. 2018 Frontiers in genetics
29761652 Vitamin D status and associated genetic polymorphisms in a cohort of UK children with non-alcoholic fatty liver disease. Gibson PS et al. 2018 Pediatric obesity
29993274 The Association Between Vitamin D Binding Protein Polymorphisms and Vitamin D Level on Epilepsy in China. Wang H et al. 2018 DNA and cell biology
30083974 Association of vitamin D binding protein and vitamin D receptor gene polymorphisms in Iranian patients with chronic periodontitis. Nazemisalman B et al. 2019 Odontology
30093573 The vitamin D binding protein axis modifies disease severity in lymphangioleiomyomatosis. Miller S et al. 2018 The European respiratory journal
30184533 A High-Protein/Low-Fat Diet May Interact with Vitamin D-Binding Protein Gene Variants to Moderate the Risk of Depression in Apparently Healthy Adults. Pooyan S et al. 2018 Lifestyle genomics
30405883 Variability in genes regulating vitamin D metabolism is associated with vitamin D levels in type 2 diabetes. Bertoccini L et al. 2018 Oncotarget
30548492 Association of group-specific component exon 11 polymorphisms with bronchial asthma in children and adolescents. Fawzy MS et al. 2019 Scandinavian journal of immunology
30581332 Association Between Two Common Polymorphisms of Vitamin D Binding Protein and the Risk of Coronary Artery Disease: A Case-control Study. Tarighi S et al. 2017 Journal of medical biochemistry
30651747 The <i>GC2</i> haplotype of the vitamin D binding protein is a risk factor for a low plasma 25-hydroxyvitamin D concentration in a Han Chinese population. Zhou JC et al. 2019 Nutrition & metabolism
30661702 Associations of vitamin D binding protein variants with the vitamin D-induced increase in serum 25-hydroxyvitamin D. Mehramiz M et al. 2019 Clinical nutrition ESPEN
30774661 Clinical Usefulness of Bioavailable Vitamin D and Impact of <i>GC</i> Genotyping on the Determination of Bioavailable Vitamin D in a Korean Population. Kim HY et al. 2019 International journal of endocrinology
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)
30886976 Vitamin D in individuals before onset of rheumatoid arthritis - relation to vitamin D binding protein and its associated genetic variants. Brink M et al. 2018 BMC rheumatology
30889212 Total 25-hydroxy vitamin D level in cerebrospinal fluid correlates with serum total, bioavailable, and free 25-hydroxy vitamin D levels in Korean population. Lee DH et al. 2019 PloS one
30942619 Role of <i>VDR</i>, <i>GC</i>, and <i>CYP2R1</i> Polymorphisms in the Development of Hepatocellular Carcinoma in Hepatitis C Virus-Infected Patients. Barooah P et al. 2019 Genetic testing and molecular biomarkers
30959383 Efficacy of vitamin D supplementation according to vitamin D-binding protein polymorphisms. Al-Daghri NM et al. 2019 Nutrition (Burbank, Los Angeles County, Calif.)
30982131 Cerebrospinal fluid vitamin D-binding protein as a new biomarker for the diagnosis of meningitis. Lee DH et al. 2019 Neurological sciences
31007727 Interactions between vitamin D binding protein variants and major dietary patterns on the odds of metabolic syndrome and its components in apparently healthy adults. Rahimi MH et al. 2019 Diabetology & metabolic syndrome
31030503 Vitamin D-Binding protein Gene Polymorphism Predicts Pegylated Interferon-Related HBsAg Seroclearance in HBeAg-Negative Thai Chronic Hepatitis B Patients: A Multicentre Study Thanapirom K et al. 2019 Asian Pacific journal of cancer prevention
31153533 Effect of Vitamin D Serum Levels and GC Gene Polymorphisms in Liver Fibrosis Due to Chronic Hepatitis C. Azevedo LA et al. 2017 Annals of hepatology
31156695 Systematic Review and Meta-Analysis to Establish the Association of Common Genetic Variations in Vitamin D Binding Protein With Chronic Obstructive Pulmonary Disease. Khanna R et al. 2019 Frontiers in genetics

Genomic regions, transcripts, and products
Top Help

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